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General and endocrine symptoms and physical signs 

General and endocrine symptoms and physical signs
Chapter:
General and endocrine symptoms and physical signs
Author(s):

Huw Llewelyn

, Hock Aun Ang

, Keir Lewis

, and Anees Al-Abdullah

DOI:
10.1093/med/9780199679867.003.0003
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Subscriber: null; date: 21 October 2017

General principles

The findings are discussed in a sequence of the general examination. You will have been looking at the patient’s face during the history. Begin with the fingernails and joints, backs and fronts of hands, arms, elbows, moving up to the neck and scalp, then down to the face, mouth, the throat, the breasts, axillae, trunk, and groin. Note any skin abnormalities.

Findings with endocrine causes

  • General and endocrine symptoms and physical signs Diffuse hair loss, p.[link]

  • General and endocrine symptoms and physical signs Striking facial appearance, p.[link]

  • General and endocrine symptoms and physical signs Proptosis of eye(s) or exophthalmos, p.[link]

  • General and endocrine symptoms and physical signs Low body temperature, p.[link]

  • General and endocrine symptoms and physical signs Solitary thyroid nodule, p.[link]

  • General and endocrine symptoms and physical signs Galactorrhoea, p.[link]

  • General and endocrine symptoms and physical signs Gynaecomastia, p.[link]

  • General and endocrine symptoms and physical signs Hirsutism in a female, p.[link]

  • General and endocrine symptoms and physical signs Abdominal striae, p.[link]

  • General and endocrine symptoms and physical signs Obesity, p.[link]

  • General and endocrine symptoms and physical signs Pigmented creases and flexures (and buccal mucosa), p.[link]

Fingernail abnormality

Classify fingernail changes by ‘naming’ them first. Some have few causes and are good diagnostic leads.

Classification

  • Clubbing

  • due to many causes (see General and endocrine symptoms and physical signs Clubbing, p.[link])

Confirmed by: angle lost between nail and finger (no gap when nails of same finger on both hands apposed, bogginess of nail bed, increased nail curvature, both longitudinally and transversely, and drumstick finger appearance).

  • Terry’s lines

  • due to many causes (see General and endocrine symptoms and physical signs Terry’s lines: dark pink or brown bands on nails, p.[link])

Confirmed by: nail tips having dark pink or brown bands.

  • Nail fold infarcts

  • due to vasculitis due to many causes (see General and endocrine symptoms and physical signs Vasculitic nodules on fingers, p.[link])

Confirmed by: dark blue-black areas in nail fold.

  • Koilonychia

  • due to iron deficiency anaemia (occasionally ischaemic heart disease or syphilis)

  • Suggested by: spoon-shaped nails.

  • Confirmed by: ↓Hb, ↓ferritin from iron deficiency (basal or exercise ECG for ischaemic heart disease; serology for syphilis).

  • Onycholysis

  • due to psoriasis, hyperthyroidism

  • Suggested by: nail thickened, dystrophic, and separated from the nail bed.

  • Confirmed by: clinical appearance and evidence of cause, e.g. skin changes of psoriasis or ↑FT4 ± ↑FT3 and ↓TSH.

  • Beau’s lines

  • due to any period of severe illness

  • Suggested by: transverse furrows.

  • Confirmed by: history of associated condition.

  • Longitudinal lines

  • due to lichen planus, alopecia areata, Darier’s disease

Suggested by: transverse furrows (ending in triangular nicks and nail dystrophy in Darier’s disease).

  • Onychomedesis

  • due to any period of severe illness

  • Suggested by: shedding of nail.

  • Confirmed by: history of associated condition.

  • Muehrcke’s lines

  • due to hypoalbuminaemia

  • Suggested by: paired, white, parallel, transverse bands.

  • Confirmed by: serum albumin <20g/L.

  • Nail pitting

  • due to psoriasis or alopecia areata

  • Suggested by: small holes in nail.

  • Confirmed by: rash on extensor surfaces with silvery scales (psoriasis) or circumscribed areas of hair loss (alopecia areata).

  • Splinter haemorrhages

  • due to infective endocarditis (sometimes due to manual labour)

  • Suggested by: fine, longitudinal, haemorrhagic streaks under the nail.

  • Confirmed by: history of manual labour (or fever, changing heart murmurs, and bacterial growth on several blood cultures).

  • Chronic paronychia

  • due to chronic infection of nail bed

  • Suggested by: red, swollen, and thickened skin in nail fold.

  • Confirmed by: response to antibiotics (erythromycin for bacterial infection or nystatin for fungal infection).

  • Mees’ lines

  • due to arsenic poisoning or renal failure, Hodgkin’s disease, heart failure

  • Suggested by: single, white, transverse bands.

  • Confirmed by: presence of associated conditions.

  • ‘Yellow’ nails

  • due to lymphoedema, bronchiectasis, hypoalbuminaemia

  • Suggested by: colour!

  • Confirmed by: presence of associated condition.

Clubbing

Present when the angle is lost between nail and finger (no gap when nails of same finger on each hand apposed). Initial investigations: FBC, ESR/CRP, CXR. Subsequent tests depend on other evidence below and the possibilities suggested.

Main differential diagnoses and typical outline evidence, etc.

Subacute bacterial endocarditis

  • Suggested by: general malaise, weight loss, pallor, low-grade fever, changing heart murmurs ± past medical history (PMH) of valve or congenital heart disease. FBC: ↓Hb, ↑WBC.↑↑ESR,↑↑CRP.

  • Confirmed by: growth of organism, e.g. Streptococcus viridians after serial blood cultures ± endocardial vegetations on transoesophageal echocardiography.

  • Finalized by the predictable outcome of management, e.g. treatment on high index of suspicion, hospital admission, avoidance of antibiotics before blood cultures, initial benzylpenicillin and gentamicin IV for 4wk with gentamicin levels.

Cyanotic congenital heart disease

  • Suggested by: long past history, central cyanosis.

  • Confirmed by: echocardiogram appearances.

  • Finalized by the predictable outcome of management, e.g. O2 therapy, treatment of heart failure and infection, surgical intervention.

Bronchial carcinoma

  • Suggested by: malaise, increased cough, weight loss, haemoptysis. Smoking history. Opacity (suggestive of mass ± pneumonia ± effusion) on CXR and CT scan.

  • Confirmed by: bronchoscopy appearances and histology.

  • Finalized by the predictable outcome of management, e.g. control of pain and infection. Non-small cell tumours: excision, radiotherapy, or combined radiotherapy and chemotherapy depending on staging. Small cell tumours: chemotherapy or palliative radiotherapy.

Bronchiectasis

  • Suggested by: chronic cough, productive of copious purulent, often rusty-coloured sputum.

  • Confirmed by: CXR and CT scan: thickened ‘tram line’ (dilated) bronchi. Bronchoscopy appearances.

  • Finalized by the predictable outcome of management, e.g. postural drainage, antibiotics according to sputum culture and sensitivity, bronchodilators (e.g. nebulized salbutamol), steroids (e.g. prednisolone), surgerical removal of affected segments.

Lung abscess

  • Suggested by: cough, very ill, spiking fever, PMH of lung disease.

  • Confirmed by: CXR: mass containing fluid level (air above pus).

  • Finalized by the predictable outcome of management, e.g. antibiotics according to sputum culture and sensitivity for up to 6wk, aspiration, and antibiotic instillation, surgical excision.

Empyema

  • Suggested by: cough, being very ill, fever, stony dull over one lung.

  • Confirmed by: neutrophilia. CXR: long opacity on one view. Aspiration of pus, culture and sensitivity.

  • Finalized by the predictable outcome of management, e.g. antibiotics, chest drain.

Fibrosing alveolitis

  • Suggested by: cough, fine crackles, especially bases.

  • Confirmed by: CXR + HRCT: bilateral diffuse nodular shadows or honeycombing (late finding).

  • Finalized by the predictable outcome of management, e.g. oral steroids (e.g. prednisolone) for up to 4mo, immunosuppressants (e.g. azathioprine), or both.

Hepatic cirrhosis

  • Suggested by: long history of liver disease, e.g. due to high alcohol intake, ascites, U&E and CXRs, prominent abdominal veins. In males: spider naevi, gynaecomastia.

  • Confirmed by:serum albumin, abnormal liver function tests. (LFTs) and liver biopsy findings.

  • Finalized by the predictable outcome of management, e.g. no alcohol, low-salt diet if ascites, vitamin K ifprothrombin time, anti-flu and pneumococcal vaccination, colestyramine if pruritus.

Crohn’s disease

  • Suggested by: history of chronic diarrhoea and abdominal pain, low weight.

  • Confirmed by: colonoscopy and biopsy, barium enema, and barium meal and follow-through.

  • Finalized by the predictable outcome of management, e.g. oral prednisolone if mild, IV if severe, immunosuppressants (e.g. methotrexate), immunotherapy (e.g. infliximab).

Ulcerative colitis

  • Suggested by: history of intermittent diarrhoea with blood and mucus, low weight.

  • Confirmed by: colonoscopy and biopsy.

  • Finalized by the predictable outcome of management, e.g. prednisolone PO + mesalazine, prednisolone enema; hydrocortisone IV if severe followed by prednisolone PO and sulfasalazine ± surgery.

Normal variant or familial clubbing

  • Suggested by: incidental finding with no symptoms or signs of any other illness that could act as a pathological cause and± family history.

  • Confirmed by: FBC, U&E, and CXR showing no findings that could explain clubbing.

  • Finalized by the predictable outcome of management, e.g. reassurance and follow up resulting in no subsequent explanatory illness.

Terry’s lines: dark pink or brown bands on nails

Initial investigations: FBC, LFT, CXR, ESR/CRP. Subsequent tests depend on other evidence:

Main differential diagnoses and typical outline evidence, etc.

Hepatic cirrhosis

  • Suggested by: long history of liver disease, e.g. due to high alcohol intake, ascites, prominent abdominal veins. In males: spider naevi, gynaecomastia.

  • Confirmed by:serum albumin, abnormal LFTs. Liver biopsy findings.

  • Finalized by the predictable outcome of management, e.g. no alcohol, low salt diet if ascites, vitamin K ifprothrombin time, anti-flu and pneumococcal vaccination, colestyramine for pruritus.

Congestive cardiac failure

  • Suggested by: dyspnoea, orthopnoea, paroxysmal nocturnal dyspnoea (PND), ↑JVP, gallop rhythm, basal inspiratory crackles, ankle oedema.

  • Confirmed by: CXR and echocardiography.

  • Finalized by the predictable outcome of management, e.g. diuretics (e.g. furosemide), ACE inhibitors (e.g. ramipril), β-blockers (e.g. bisoprolol), spironolactone, and digoxin.

Diabetes mellitus (DM)

  • Suggested by: thirst, polydipsia, polyuria, fatigue, family history.

  • Confirmed by: fasting blood glucose ≥7.0mmol/L on two occasions OR fasting, random or 2h GTT glucose ≥11.1mmol/L once only with symptoms or HbA1c > 48mmol/mol (6.5%).

  • Finalized by the predictable outcome of management, e.g. diabetic diet, lifestyle advice, e.g. exercise, no smoking. Insulin for type 1 diabetes mellitus. Metformin, sulphonylureas, gliptins and GLP-1 agonists, SGLT2 inhibitors, insulin for type 2 DM.

Cancer somewhere

  • Suggested by: weight loss and anorexia with symptoms developing over months, bone pain.

  • Confirmed by: careful history, examination, CXR, FBC, ESR, and follow-up.

Old age

  • Suggested by: age >75y.

  • Confirmed by: no other illness discovered on follow-up.

Vasculitic nodules on fingers

Nodules and dark lines in nail folds are focal areas of infarction, which suggest local vasculitis. Initial investigations: FBC, ESR/CRP. Subsequent tests depend on other evidence:

Main differential diagnoses and typical outline evidence, etc.

Systemic lupus erythematosus (SLE)

  • Suggested by: swelling of distal interphalangeal (IP) joints, any other large joints, malar rash, pleural effusion, especially in Afro-Caribbean females. Multisystem dysfunction.

  • Confirmed by: FBC: ↓Hb, ↓WBC. ↑ESR or ↑CRP. Anti-nuclear antibody +ve, especially if directed at double-stranded DNA.

  • Finalized by the predictable outcome of management, e.g. NSAIDs for mild disease, topical steroids, sunblocks for rashes, antimalarials, e.g. hydroxychloroquine for joint pain. For systemic disease and renal disease: oral steroids and immunosuppressants. Plasmapharesis for severe cases.

Subacute bacterialendocarditis (‘Osler nodes’)

  • Suggested by: general malaise, weight loss, pallor, low-grade fever, changing heart murmurs ± PMH of valve or congenital heart disease. FBC: ↓Hb, ↑WCC.↑↑ESR,↑↑CRP.

  • Confirmed by: growth of organism, e.g. Streptococcus viridians after serial blood cultures ± endocardial vegetations on transoesophageal echocardiography.

  • Finalized by the predictable outcome of management, e.g. avoidance of antibiotics before blood cultures, initial benzylpenicillin and gentamicin IV pending culture results.

Hand arthropathy

Look at the finger joints (IP joints), the knuckles (the metacarpophalangeal or MCP joints), and compare. Finally, look at the wrist. Initial investigations: FBC, RF, ANA, X-ray hands. Subsequent tests depend on other evidence:

Main differential diagnoses and typical outline evidence, etc.

Primary (post-menopausal) osteoarthrosis

  • Suggested by: Heberden’s nodes (paired bony nodes on terminal IP joints).

  • Confirmed by: X-ray appearances of affected joints.

  • Finalized by the predictable outcome of management, e.g. analgesics and NSAIDs if not contraindicated + gastric acid reduction, e.g. proton pump inhibitor (PPI).

Rheumatoid arthritis (RA)

  • Suggested by: swelling and deformity of phalangeal joints (with ulnar deviation), of wrist, and ‘rheumatoid nodules’.

  • Confirmed by: +ve rheumatoid factor. X-ray appearances of affected joints.

  • Finalized by the predictable outcome of management, e.g. physiotherapy and occupational therapies, analgesics, and NSAIDs + gastric acid reduction (e.g. PPI), low- dose prednisolone, disease-modifying drugs (DMARDs) (e.g. methotrexate), immunotherapy, e.g. infliximab.

Psoriatic arthropathy

  • Suggested by: swelling and deformity of distal (or all) IP joints. X-ray appearances of affected joints.

  • Confirmed by: dry rash with silvery scales (especially near elbow extensor surface).

  • Finalized by the predictable outcome of management, e.g. NSAIDs, e.g. diclofenac + gastric acid reduction (e.g. PPI), DMARDS, e.g. methotrexate, leflunomide; immunotherapy e.g. infliximab.

SLE

  • Suggested by: swelling and deformity of all (or distal) IP joints, butterfly facial rash, signs of pleural/pericardial effusion, renal impairment.

  • Confirmed by: +ve anti-nuclear factor, ↑ double stranded DNA antibodies.

  • Finalized by the predictable outcome of management, e.g. NSAIDs for mild disease, sunblocks and topical steroids for rashes, antimalarials, e.g. hydroxychloroquine for joint pain, for systemic or renal disease, oral steroids and immunosuppressants. Plasmapharesis for severe cases.

Lumps around the elbow

Inspect and palpate with care so as not to hurt the patient. Initial investigations: FBC, RF, PI urate, X-ray elbow. Subsequent tests depend on other evidence:

Main differential diagnoses and typical outline evidence, etc.

Osteoarthritis

  • Suggested by: joint deformity, intermittent pain and swelling, paired Heberden’s nodes over distal I-P joints in primary osteoarthritis.

  • Confirmed by: clinical appearance if gross. If mild, X-ray showing loss of joint space (due to atrophy of cartilage) and –ve rheumatoid factor.

  • Finalized by the predictable outcome of management, e.g. analgesics and NSAIDs + gastric acid reduction, e.g. PPI.

Rheumatoid nodules

  • Suggested by: mobile subcutaneous nodule.

  • Confirmed by: history or joint changes of rheumatoid arthritis and +ve rheumatoid factor.

  • Finalized by the predictable outcome of management, e.g. physiotherapy and occupational therapies, analgesics and NSAIDs + gastric acid reduction (e.g. PPI), low dose prednisolone, DMARDs (e.g. methotrexate), immunotherapy, e.g. infliximab.

Xanthomatosis

  • Suggested by: pale subcutaneous plaques attached to underlying tendon.

  • Confirmed by: hyperlipidaemia on blood testing.

  • Finalized by the predictable outcome of management, e.g. treatment of hyperlipidaemia, excision or electrocautery if unsightliness remains.

Gouty tophi

  • Suggested by: irregular hard nodules, risk factors or PMH of gout.

  • Confirmed by:plasma urate. Biopsy: urate crystals present.

  • Finalized by the predictable outcome of management, e.g. allopurinol, local excision of tophi if required.

Neck stiffness

Distinguish between limited range of neck movement and neck stiffness throughout range of movement. Initial investigations: FBC, X-ray neck. (Other tests in bold:)

  • Limited neck range of movement.

    Main differential diagnoses and typical outline evidence, etc.

    Chronic cervical spondylosis with osteophytes

    • Suggested by: no fever or associated symptoms.

    • Confirmed by: limitation in range of neck movement, but no stiffness within free range of movement. WCC normal, no fever, no neurological signs, neck X-ray appearance.

    • Finalized by the predictable outcome of management, e.g. analgesics, muscle relaxants, and NSAIDs (if no contraindication) + gastric acid reduction (e.g. PPI), intermittent cervical collar, physiotherapy.

  • Neck stiffness throughout range of movement.

    Bacterial meningitis

    • Suggested by: gradual headache over days, photophobia, vomiting. Fever, ↑neutrophil count. Petechial rash (in meningococcal meningitis).

    • Confirmed by: lumbar puncture: turbid CSF, ↑CSF neutrophil count with ↓glucose. Bacteria on microscopy. Growth of bacteria on culture of CSF.

    • Finalized by the predictable outcome of management, e.g. ABC (airway, breathing, circulation) benzylpenicillin IV/IM while awaiting transport to hospital (cefotaxime for penicillin allergic patients), gain IV access, contact tracing, and treatment.

    Viral meningitis

    • Suggested by: gradual headache over days. Fever, ↑lymphocyte count, normal neutrophil count.

    • Confirmed by: lumbar puncture: clear CSF. ↑CSF lymphocyte count with normal glucose. No bacteria on microscopy. No growth of bacteria on CSF culture.

    • Finalized by the predictable outcome of management, e.g. analgesia, reassurance that illness is self-limiting; if features suspicious of encephalitis, aciclovir.

    Meningism due to viral infection

    • Suggested by: gradual headache over days. Fever, ↑lymphocyte count, normal neutrophil count.

    • Confirmed by: lumbar puncture: clear CSF. Normal CSF white cell count. No bacteria on microscopy. No growth of bacteria on CSF culture.

    • Finalized by the predictable outcome of management, e.g. analgesia, reassurance that illness is self-limiting.

    Subarachnoid haemorrhage

    • Suggested by: sudden onset of headache over seconds. Variable degree of consciousness. No fever. Normal WCC.

    • Confirmed by: CT or MRI brain scan appearance. Lumbar puncture: bloodstained CSF that does not clear in successive bottle collection (may be negative if <2h after the bleed, or presence of xanthochromia in CSF (12h to 2wk after the haemorrhage).

    • Finalized by the predictable outcome of management, e.g. discussion with neurosurgeons, regular monitoring of vital signs and Glasgow coma scale. If no rebleeding, clipping of an aneurysm ± clot evacuation if surgically feasible.

    Acute cervical spondylitis

    • Suggested by: gradual neck pain (occasionally a headache) over hours or days. Immobile neck. Usually past history of similar episodes. No fever.

    • Confirmed by: above history.

    • Finalized by the predictable outcome of management, e.g. analgesics and NSAIDs if not contraindicated + prophylactic gastric acid reduction (e.g. PPI), cervical collar, physiotherapy.

    Posterior fossa tumour

    • Suggested by: headache, papilloedema.

    • Confirmed by: CT or MRI scan appearances.

    • Finalized by the predictable outcome of management, e.g. analgesia, dexamethasone to reduce brain oedema, treatment of seizures with anti-epileptics, assessment for resection or palliative surgery, palliative radiotherapy.

    Anxiety with semi-voluntary resistance

    • Suggested by: improvement with reassurance or temporary distraction.

    • Confirmed by: resolution after rest and observation.

    • Finalized by the predictable outcome of management, e.g. analgesia, reassurance.

Hair loss in a specific area

Examine overall and then gently part hair to examine scalp. Use magnifying glass if hair is abnormal. Initial investigations: FBC, ferritin, TSH.

Main differential diagnoses and typical outline evidence, etc.

Alopecia areata

  • Suggested and confirmed by: well-circumscribed loss with exclamation mark hairs.

  • Finalized by the predictable outcome of management, e.g. reassurance, advice not to scratch, local triamcinolone if slow to resolve.

Alopecia totalis

  • Suggested and confirmed by: total hair loss on head.

  • Finalized by the predictable outcome of management: treatment of underlying problems (e.g. stress, iron deficiency, hypothyroidism), use of wig, local minoxidil for androgenic alopecia.

Polycystic ovary syndrome

  • Suggested by: bitemporal recession and occipital thinning. Hirsutism on trunk. Onset near puberty. Obesity.

  • Confirmed by:testosterone and ↓SHBG. ↑LH, ovarian US scan.

  • Finalized by the predictable outcome of management: metformin to reduce insulin resistance, combined oestrogen ‘pill’ to ↑SHBG and ↓free androgen, combined with cyproterone for hirsutism. Clomifene to induce ovulation.

Testosterone-secreting ovarian tumour

  • Suggested by: bitemporal recession and occipital thinning. Rapid onset over months.

  • Confirmed by:↑↑testosterone and ↓LH, ovarian US scan, and laparoscopy appearance.

  • Finalized by the predictable outcome of management: resection of tumour.

Scarring after tinea, discoid lupus, pseudopelade of Brocq, folliculitis decalvans, pseudofolliculitis barbe, dissecting cellulitis, lichen planopilaris, scleroderma, morphea, amyloidosis, lymphoma, sarcoidosis.

Diffuse hair loss

Examine trunk, pubic, and limb hair too (alopecia universalis). Initial investigations: FBC, ferritin.

Main differential diagnoses and typical outline evidence, etc.

Cytotoxic drugs

  • Suggested by: mainly head hair loss. History of recent cytotoxic drugs.

  • Confirmed by: improvement after stopping cytotoxic drug.

  • Finalized by the predictable outcome of management, e.g. explanation and temporary wig while awaiting recovery.

Iron deficiency

  • Suggested by: mainly head hair loss. Koilonychia, pallor of conjunctivae.

  • Confirmed by:Hb, ↓MCV, ↓MCHC, ↓ferritin. Improvement if iron stores restored.

  • Finalized by the predictable outcome of management: iron replacement, e.g. ferrous sulfate, investigation and treatment of the underlying cause.

Severe illness

  • Suggested by: mainly head hair loss. History of recent severe illness.

  • Confirmed by: improvement with restoration of health.

  • Finalized by the predictable outcome of management, e.g. treatment of underlying illness.

Hypogonadism

  • Suggested by: loss of hair from axilla, pubic area.

  • Confirmed by:testosterone or ↓oestrogen with ↑FSH and ↑LH in primary gonadal failure; normal or ↓LH, normal or ↓FSH if 2° to pituitary disease.

  • Finalized by the predictable outcome of management, e.g. cyclical oestrogen in female or testosterone replacement therapy in male (IM, gel, patch or implant, provided prostatic-specific antigen normal).

Recent pregnancy

  • Suggested by: mainly head hair loss. Recent pregnancy.

  • Confirmed by: improvement after delivery.

  • Finalized by the predictable outcome of management, e.g. explanation and reassurance but no active treatment.

External ear abnormalities

Inspect the pinna for scars and other abnormalities. Examine the auditory meatus by first pulling the pinna up and back to straighten the cartilaginous bend. (In infants, pinna is pulled back and down.) Swab any discharge and remove any wax. Initial investigations: swab, culture, and sensitivity.

Main differential diagnoses and typical outline evidence, etc.

Congenital anomalies

  • Suggested by: malformed pinna, accessory tags, auricles, and pre-auricular pit, sinus, or fistula and microtia (no pinna ± atresia of ear canal).

  • Confirmed by: above clinical appearances. CT and MRI scans to exclude other associated abnormalities.

Infected pre-auricular sinus

  • Suggested by: a small dimple anterior to tragus with a discharge.

  • Confirmed by: deep tract that lies close to the facial nerve. Swab, culture, and sensitivity.

  • Finalized by the predictable outcome of management, e.g. antibiotics according to culture and sensitivity, excision if recurrent infection.

Chondrodermatitis nodularis chronica helicis

  • Suggested by: painful nodular lesions on the upper margin of the pinna in men (helical rim) or antihelix (in women), pain wakes patient up at night.

  • Confirmed by: clinical appearance.

  • Finalized by the predictable outcome of management, e.g. avoid pressure (lying on other side), local triamcinolone, or excision.

Pinna haematoma resulting in a ‘cauliflower’ ear

  • Suggested by: history of blunt trauma.

  • Confirmed by: appearance of bleeding in the subperichondrial plane that elevates the perichondrium to form a haematoma.

  • Finalized by the predictable outcome of management, e.g. aspiration with a wide-bore needle followed by firm pressure dressing; or failing this, incision and drainage.

Exostosis (localized bony hypertrophy) may cause buildup of wax or debris or conductive deafness

  • Suggested by: palpable bony projections in the ear canals, accumulated wax difficult to clear ± history of frequent swimming in cold water.

  • Confirmed by: sessile, smooth, often multiple, bilateral bony overgrowths of the ear canals.

  • Finalized by the predictable outcome of management, e.g. no treatment or if wax accumulation, surgical removal of exostoses.

Wax (cerumen)—may cause conductive deafness if it impacts

  • Suggested by: hearing difficulty, irritation in the ear, dark brown, shiny, soft mass.

  • Confirmed by: improvement in hearing after removal.

  • Finalized by the predictable outcome of management, e.g. slightly warm olive oil drops, ear syringing, or suctioning.

Foreign bodies in the ear

  • Suggested by: visible foreign body and inflammation (in a child or patient with learning difficulties).

  • Confirmed by: retrieval of foreign body.

  • Finalized by the predictable outcome of management, e.g. removal by gentle syringing or forceps, a button battery needs to be removed immediately or if an insect, apply some olive oil first.

Painful ear

Consider referred pain from neck (C3, C4, and C5), throat, and teeth, and examine these too. Insert the largest comfortable aural speculum gently. Initial investigations: swab, culture, and sensitivity.

Main differential diagnoses and typical outline evidence, etc.

Otitis externa (swimmer’s ear) due to eczema, psoriasis, trauma, Pseudomonas, fungal infection

  • Suggested by: itching, irritation, pain, discharge, and tragal tenderness, recent ear syringing.

  • Confirmed by: acute inflammation of the skin of the meatus, culture of swab, intact tympanic membrane.

  • Finalized by the predictable outcome of management, e.g. analgesics, if mild—antibiotics and steroid drops; if severe, clearing of debris and keeping ear dry, ear canal dressing with ribbon gauze impregnated with antiseptic and changed daily and no swimming.

Malignant necrotizing otitis externa

  • Suggested by: pain, discharge, and tragal tenderness in a diabetic, elderly, or immunosuppressed person, facial palsy.

  • Confirmed by: X-ray showing local bone erosion, isotope bone scan, and white cell scan.

  • Finalized by the predictable outcome of management, e.g. aural toilet, local and systemic antibiotics; surgical debridement if severe.

Furunculosis (staphylococcal abscess in hair follicle) often diabetic

  • Suggested by: acutely painful throbbing ear, pain worse on moving the pinna or pressing on tragus.

  • Confirmed by: appearance of a boil in the meatus.

  • Finalized by the predictable outcome of management, e.g. insertion of wick soaked in ichthammol to ease pain, analgesics, and oral antibiotics.

Bullous myringitis (associated with influenza infection or Mycoplasma pneumoniae)

  • Suggested and confirmed by: extremely painful haemorrhagic blisters on the drum and deep meatal skin, and fluid behind the drum.

  • Finalized by the predictable outcome of management, e.g. analgesia alone.

Barotrauma (aerotitis)

  • Suggested by: history of ear pain during descent in an aircraft or diving.

  • Confirmed by: relief by decompression (e.g. holding nose and swallowing).

  • Finalized by the predictable outcome of management, e.g. repeated Valsalva manoeuvre to open up the Eustachian tube, with use of topical nasal decongestants; myringotomy if intractible.

Temporomandibular joint dysfunction

  • Suggested by: earache, facial pain, and joint clicking or popping related to malocclusion, teeth-grinding, or joint derangement.

  • Confirmed by: tenderness exacerbated by lateral movement of the open jaw, or trigger points in the pterygoids.

  • Finalized by the predictable outcome of management: simple analgesics, e.g. paracetamol, NSAIDs, muscle relaxants and correction of malocclusive bite.

Discharging ear

Examine the tympanic membrane quadrants in turn. Note colour, translucency, and any bulging or retraction of the membrane. Note size, position, and site (marginal or central) of any perforations. Drum movement during a Valsalva manoeuvre also depends on a patient’s Eustachian tube. Initial investigations: swab, culture, and sensitivity.

Main differential diagnoses and typical outline evidence, etc.

  • Acute otitis media

  • (due to Pneumococcus, Haemophilus, Streptococcus, and Staphylococcus, occasionally complicated by mastoiditis)

  • Suggested by: rapid onset over hours of throbbing and severe pain and fever, irritability, anorexia, or vomiting after an upper respiratory tract infection.

  • Confirmed by: bulging red drum or profuse purulent discharge for 48h after drum perforates. Swab, culture and sensitivity.

  • Finalized by the predictable outcome of management, e.g. analgesics, antibiotics if symptoms persist after 24h, myringotomy if bulging persists.

  • Otitis media with effusion

  • (serous, secretory, or glue ear) usually in young children

  • Suggested by: gradual onset over weeks or months of deafness and intermittent ear pain.

  • Confirmed by: loss of drum’s light reflex or retraction relieved by grommets.

  • Finalized by the predictable outcome of management, e.g. advise that it may improve spontaneously; treatment of predisposing conditions, e.g. allergic rhinitis, cleft palate; insertion of grommets ± adenoidectomy if persistence.

  • Chronic suppurative otitis media

  • (may lead to cholesteatoma, petrositis, labyrinthitis, facial palsy, meningitis, intracranial abscess)

  • Suggested by: offensive purulent discharge, hearing loss, but no pain.

  • Confirmed by: central drum perforation, swab, culture and sensitivity.

  • Finalized by the predictable outcome of management, e.g. local and systemic antibiotics based on culture and sensitivity; regular aural toilet; myringoplasty and cortical mastoidectomy if severe.

  • Cholesteatoma

  • (locally destructive stratified squamous epithelium)

  • Suggested by: foul discharge, deafness, headache, ear pain, facial paralysis, and vertigo.

  • Confirmed by: continuing mucopurulent discharge, swab, culture, and sensitivity, pearly white soft matter (keratin) in attic or posterior marginal perforation.

  • Finalized by the predictable outcome of management, e.g. if early retraction pocket, clean and remove keratin; if advanced, mastoid surgery.

Chronic otitis externa

  • Suggested by: watery discharge, itching, bilateral symptoms, painless and relapsing.

  • Confirmed by: erythema and weeping of meatus.

  • Finalized by the predictable outcome of management, e.g. keeping ears dry, regular aural toilets, avoidance of local antibiotic drops, oral antibiotics when indicated according to culture and sensitivity.

Auditory canal trauma

  • Suggested by: bloody discharge.

  • Confirmed by: history of trauma, laceration, and erythema.

  • Finalized by the predictable outcome of management, e.g. analgesics, stopping bleeding with pressure + dressing, suturing if needed.

CSF otorrhoea

  • Suggested by: history of head or facial trauma or surgery.

  • Confirmed by: halo sign on filter paper.

  • Finalized by the predictable outcome of management, e.g. observation, prophylactic antibiotics.

Striking facial appearance

Best recognized when meeting patient for the first time, but there is a wide normal variation. Initial investigations: TSH, ±FT4.

Main differential diagnoses and typical outline evidence, etc.

Parkinson’s disease

  • Suggested by: rigidity, lack or slowness of movements, reduced or absence of arm swing on walking, mask-like (akinetic) face ± hand or head tremor.

  • Confirmed by: response to dopaminergic drugs. CT and MRI scans to eliminate other diagnoses. (Failure to respond to levodopa indicates no idiopathic Parkinson’s disease.)

  • Finalized by the predictable outcome of management, e.g. initially dopamine-releasing agents (e.g. amantadine), monoamine oxidase inhibitors (e.g. selegiline), or anticholinergics (e.g. trihexyphenidyl). In later severe disease, levodopa or dopamine agonists.

Huntington’s chorea (or drug effect)

  • Suggested by: choreiform—jerky, purposeless facial movement or athetosis (writhing facial movement), tongue protrusion, and a bizarre gait.

  • Confirmed by: family history or response to withdrawal of drug or dose reduction (if due to drug effect); also genetic studies.

  • Finalized by the predictable outcome of management, e.g. symptomatic, e.g. tetrabenazine and haloperidol to reduce involuntary movements.

  • Bilateral upper or lower motor neurone lesion

  • (due to motor neurone disease, cerebrovascular disease, myasthenia gravis)

  • Suggested by: paucity of movement of face, muscle weakness, and fasciculation.

  • Confirmed by: other features of cause and MRI or CT scan.

  • Finalized by the predictable outcome of management, e.g. physiotherapy, occupational, and speech therapies, psychological support.

  • Thyrotoxicosis

  • due to Graves’ disease, single or multiple toxic nodules

  • Suggested by: anxious-looking, thin, lid retraction and lag, tremor, hyperreflexia, diffuse goitre in Graves’, visible or palpable nodules(s) if toxic nodules.

  • Confirmed by:TSH and ↑T3 or ↑T4 or both. Thyroid antibodies +ve if Graves’. US scan or isotope scan appearance if thyroid antibody –ve and hidden nodule suspected.

  • Finalized by the predictable outcome of management, e.g. propranolol 40–80mg 8 hourly to control symptoms, carbimazole 40mg od reduced to 5–15mg od over 1–3mo period depending on TFT results; continued for 6–18mo; radioiodine therapy if hot nodule(s) or relapse of Graves’ disease after full course.

Hypothyroidism

  • Suggested by: puffy face, obesity, cold intolerance, tiredness, constipation, bradycardia.

  • Confirmed by: ↑TSH, ↓FT4.

  • Finalized by the predictable outcome of management, e.g. initially levothyroxine 50 micrograms od; if elderly or if angina, 25 micrograms od, checking TFT after 4–8wk and adjust dose accordingly.

Acromegaly

  • Suggested by: large, wide face, embossed forehead, jutting jaw (prognathism) widely spaced teeth, and large tongue. Skull X-ray showing bony abnormalities. Hand X-ray showing typical tufts on terminal phalanges.

  • Confirmed by: ↑IGF, failure to suppress GH to <2mU/L with oral GTT. MRI or CT head scan showing enlarged pituitary fossa.

  • Finalized by the predictable outcome of management, e.g. somatostatin or transsphenoidal hypophysectomy with or without radiotherapy.

Glucocorticoid steroid therapy

  • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump.

  • Confirmed by: drug history: taking high dose of glucocorticoid.

  • Finalized by the predictable outcome of management, e.g. stopping medication if appropriate.

Cushing’s disease (ACTH driven)

  • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump. Pigmented creases (suggest ↑ACTH, especially in ectopic ACTH from a carcinoma or carcinoid tumour). ↑24h urinary free cortisol.

  • Confirmed by: 2x ↑midnight cortisol and ↑midnight ACTH and failure to suppress cortisol after dexamethasone 0.5mg 6 hourly for 48h (but does suppress after 2mg 6 hourly for 48 hours) and bilaterally large adrenals on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until response to surgery. Removal of pituitary adenoma or bilateral adrenalectomy if source not identified.

Cushing’s syndrome due to adrenal adenoma or carcinoma

  • Suggested by: truncal obesity, purple striae, and bruising. No pigmentation in skin creases. ↑24h urinary free cortisol.

  • Confirmed by: 2x ↑midnight cortisol and ↓midnight ACTH and failure to suppress cortisol after dexamethasone suppression test 0.5mg 6 hourly for 48h and after 2mg 6 hourly for 48h, and unilateral large adrenal on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until surgical treatment successful. Adrenalectomy for adenoma and carcinoma, also radiotherapy.

Proptosis of eye(s) or exophthalmos

Prominent eye suggested by sclera showing between the cornea and upper lid margin (may also be due to lid retraction due to sympathetic overactivity or lung disease). If in doubt, look down on eyes from above. (In myopia there is a large eyeball but the sclera is not visible.) Initial investigations: TSH±FT4, CT orbit.

Main differential diagnoses and typical outline evidence, etc.

Ophthalmic Graves’ disease (± thyrotoxicosis)

  • Suggested by: bilateral (usually) exophthalmos, goitre, pretibial myxoedema, and lid retraction. Eyes not closing during sleep if severe.

  • Confirmed by: ↑titre of thyroid antibodies (with ↓TSH, and ↑FT4 or ↑T3). CT scan appearance.

  • Finalized by the predictable outcome of management, e.g. if mild, dark glasses, eye lubricants before bed or artificial tears during day; in severe cases, steroids PO or IV, external radiation or orbital decompression +treatment of thyrotoxicosis.

  • Orbital cellulitis

  • (medical emergency)

  • Suggested by: pain, fever, unilateral lid swelling, decreased vision, and double vision. Neurological signs in advanced disease.

  • Confirmed by: CT or MRI scan appearance, and response to antibiotics.

  • Finalized by the predictable outcome of management, e.g. antibiotics IV in hospital.

Cortico-cavernous fistula

  • Suggested by: unilateral engorgement of eye surface vessels, lid and conjunctiva, pulsatile with bruit over eye.

  • Confirmed by: CT or MRI scan appearance.

  • Finalized by the predictable outcome of management, e.g. pain control, endovascular closure.

  • Orbital tumours—

  • rarely 1°, often 2°, especially reticulosis

  • Suggested by: unilateral proptosis and displacement of the eyeball. Lymph node, liver or spleen enlargement.

  • Confirmed by: CT or MRI scan appearance.

  • Finalized by the predictable outcome of management, e.g. pain control and treatment of eye infection, surgical decompression.

Red eye

Gritty pain suggests external cause. Aching pain suggests internal cause. Light sensitivity always accompanies inflammation in the eye. Fluorescein (Fl) yellow dye glows green with a blue examination light and stains all epithelial breaks. Initial investigations: Fl stain, swab, culture, and sensitivity.

Main differential diagnoses and typical outline evidence, etc.

Spontaneous subconjunctival haemorrhage

  • Suggested by: painless bright red area on conjunctiva (oxygenated blood) and no light sensitivity.

  • Confirmed by: clinical appearance and resolution over days. No Fl staining of cornea (not done often).

  • Finalized by the predictable outcome of management, e.g. no direct treatment but treatment of associated sustained hypertension.

Conjunctivitis due to bacterial infection

  • Suggested by: red sticky eyes, dilated blood vessels on the eyeball and the tarsal (lid) conjunctiva with a purulent discharge ± bilateral ± gritty pain.

  • Confirmed by: above clinical appearance. Not light-sensitive and no Fl stain of cornea.

  • Finalized by the predictable outcome of management, e.g. antibacterial eye drops, treat any underlying cause, e.g. dry eyes, blepharitis.

Conjunctivitis due to viral infection

  • Suggested by: red eyes with dilated vessels on the eyeball only, ± in one quadrant around the cornea with a watery ‘tap running’ discharge. Gritty pain ± impaired vision.

  • Confirmed by: Fl stain showing dendritic (branching) pattern and resolution with topical antiviral.

  • Finalized by the predictable outcome of management, e.g. aciclovir if herpetic infection.

Conjunctivitis due to allergy

  • Suggested by: red eyes with pink swollen conjunctiva and white stringy mucoid discharge, usually bilateral, episodic, and seasonal.

  • Confirmed by: no Fl stain, and no visual loss and resolution with sodium cromoglycate (over 6wk) or steroid eye drops.

  • Finalized by the predictable outcome of management, e.g. advice to avoid allergens, topical sodium cromoglicate with oral antihistamine.

Giant papillary conjunctivitis

  • Suggested by: patient wearing soft contact lens, history of eye surgery. Eye red, itchy, and watery.

  • Confirmed by: cobblestone appearance of conjunctiva.

  • Finalized by the predictable outcome of management, e.g. removal of irritating sutures, suspension of contact lens use until recovery. Advice about lens hygiene and minimizing wearing time.

  • Corneal ulcer (ulcerative keratitis)

  • due to abrasion or Herpes simplex, Pseudomonas, Candida, Aspergillus, protozoa

  • Suggested by: painful, watering, light-sensitive, deeply red eye with yellowish abscess in the cornea, purulent discharge, and blurring of vision.

  • Confirmed by: slit lamp examination after fluoresceininstillation showing hypopyon (pus in the eye). Dendritic staining pattern in herpes.

  • Finalized by the predictable outcome of management, e.g. analgesics, cycloplegic eye drops (e.g. cyclopentolate) to ease pain, aciclovir in herpetic infections, eye patching for at least 24h (and no steroid eye drops until a herpes infection excluded).

Episcleritis

  • Suggested by: localized red eye with superficial vessel dilatation, mild pain, no visual loss or light sensitivity, history of recurrent episodes.

  • Confirmed by: one drop of phenylephrine 2.5% causing a blanching of the lesion.

  • Finalized by the predictable outcome of management, e.g. unless mild and settles spontaneously, steroid eye drops and NSAIDs.

  • Scleritis

  • associated with RA, SLE

  • Suggested by: localized area of dark red, dilated superficial and deep vessel on the sclera with aching pain and tenderness. Features of associated illness.

  • Confirmed by: failure to blanch with one drop of 2.5% phenylephrine.

  • Finalized by the predictable outcome of management, e.g. urgent referral for monitoring of progress ± systemic steroids.

Acute closed-angle glaucoma

  • Suggested by: severely painful red eye with marked visual loss, accompanied by nausea and vomiting ± history of haloes around lights and severe headache with blurred vision.

  • Confirmed by: dull grey cornea, non-reacting and irregular pupil with raised ocular pressures.

  • Finalized by the predictable outcome of management, e.g. analgesics and antiemetics, β-blocker drops, e.g. timolol; oral acetazolamide; laser iridotomy to prevent recurrence.

Iritis or anterior uveitis

  • Suggested by: redness around cornea, haze in front of iris, and severe photophobia.

  • Confirmed by: small, non-reacting and irregular pupil, slit lamp examination showing flare, cells and hypopyon (pus in eye).

  • Finalized by the predictable outcome of management, e.g. topical steroids but systemic steroids and immunosuppressants if severe.

Iritis (anterior uveitis)

Redness in cornea next to iris (circumcorneal injection) with muddy appearance of fluid in front of iris. The eye is painful, red, and watering with photophobia and blurred vision. All cases are referred for specialist ophthalmic management and follow-up to prevent long-term damage with adhesions and glaucoma. Initial investigations: slit-lamp examination, swab, culture, and sensitivity, RF, CXR.

Main differential diagnoses and typical outline evidence, etc.

Trauma (usually surgical)

  • Suggested by: history of impact accident, recent surgery.

  • Confirmed by: slit-lamp examination showing blood in the front of the eye and ‘D’-shaped distortion of the pupil if torn from its base or perforation if the pupil is pointing.

  • Finalized by the predictable outcome of management, e.g. symptomatic: analgesia, dark glasses, surgical follow-up.

Infection: herpes simplex, zoster, TB, syphilis, leprosy, protozoa, fungi

  • Suggested by: general malaise, fever, leucocytosis.

  • Confirmed by: bacteriological culture of eye swab or viral immunology.

  • Finalized by the predictable outcome of management, e.g. symptomatic: analgesia, dark glasses, treatment according to virology or culture and sensitivity, surgical follow-up.

Autoimmune diseases: ankylosing spondylitis, Reiter’s disease, juvenile chronic arthritis, immune ocular disease

  • Suggested by: arthritis, anaemia, no obvious fever, raised ESR.

  • Confirmed by: immunology (seronegative for Rheumatoid factor). Protein electrophoresis.

  • Finalized by the predictable outcome of management, e.g. symptomatic: analgesia, dark glasses, specialist management with oral steroids and immunosuppressive agents.

Sarcoidosis

  • Suggested by: history of dry cough, breathlessness, malaise, fatigue, weight loss, enlarged lacrimal glands, erythema nodosum. Raised serum ACE.

  • Confirmed by: CXR appearances (e.g. bilateral lymphadenopathy), tissue biopsy showing non-caseating granuloma. Slit-lamp examination showing large keratic precipitates.

  • Finalized by the predictable outcome of management, e.g. analgesia, NSAIDs for pain and erythema nodosum; oral steroids and immunosuppressive agents if severe.

Ulcerative colitis

  • Suggested by: history of diarrhoea with mucus and blood.

  • Confirmed by: colonoscopy appearance and biopsy histology.

  • Finalized by the predictable outcome of management, e.g. prednisolone PO + mesalazine, prednisolone retention enemas; if severe: hydrocortisone IV followed by prednisolone PO and sulfasalazine; surgery.

Crohn’s disease

  • Suggested by: history of abdominal pain, diarrhoea, weight loss.

  • Confirmed by: colonoscopy, barium enema and meal and follow-through.

  • Finalized by the predictable outcome of management, e.g. prednisolone for 2wk for mild attacks. Steroids IV in severe cases. Immunosuppressants (e.g. methotrexate), immunotherapy (e.g. infliximab).

Clinical anaemia

Subconjunctival pallor (± face, nail, and hand pallor). Initial investigations: FBC.

Main differential diagnoses and typical outline evidence, etc.

Microcytic due to iron deficiency, thalassaemia, etc (see General and endocrine symptoms and physical signs Microcytic anaemia, p.[link])

  • Suggested by: history of blood loss or family history of haemoglobinopathy (especially in Mediterranean origin) and sideroblastic anaemia.

  • Confirmed by: FBC: ↓Hb and ↓MCV.

  • Macrocytic

  • (see General and endocrine symptoms and physical signs Macrocytic anaemia, p.[link])

  • Suggested by: family history of pernicious anaemia, hypothyroidism, antifolate, and cytotoxic drugs or alcohol.

  • Confirmed by: FBC: dHb and iMCV, iTSH. Film: hypersegmented polymorphs in B12 deficiency.

  • Normocytic

  • (see General and endocrine symptoms and physical signs Normocytic anaemia, p.[link])

  • Suggested by: history of chronic intercurrent illness, e.g. chronic renal failure, anaemia of chronic disease, etc.

  • Confirmed by: FBC: ↓Hb and normal MCV.

Hypoplastic or aplastic anaemia

  • Suggested by: gradual onset without blood loss and potentially causal medication.

  • Confirmed by: FBC: ↓Hb and normal MCV and bone marrow biopsy: atrophic.

  • Finalized by the predictable outcome of management, e.g. stopping potential causative drugs. If persistent and severe, blood and platelet transfusion, combination immunosuppressants and bone marrow transplantation.

Leukaemia

  • Suggested by: gradual onset and enlarged spleen or lymph node (rapid deterioration in acute leukaemia).

  • Confirmed by: FBC: ↓Hb and normal MCV,↑↑WCC. Bone marrow biopsy: replacement by leukaemic cells.

  • Finalized by the predictable outcome of management, e.g. blood and platelet transfusions, chemotherapy, and bone marrow transplantation.

Fever

Temperature >37°C. Fever is not a ‘good lead’. The causes suggested here are broad. The approach is to listen carefully and examine for better diagnostic leads. Initial tests: FBC, MSU, blood cultures, viral and autoimmune serology:

Main differential diagnoses and typical outline evidence, etc.

Infection

  • Suggested by: low grade or high fever with ↑WCC and usually symptoms and signs pointing to a focus.

  • Confirmed by: serology ± cultures of blood and other body fluids.

Thrombus, tissue necrosis, neoplasm, autoimmune diseases, drugs

  • Suggested by: low-grade fever, history of severe illness, or trauma. WCC normal.

  • Confirmed by: specific tests, e.g. CXR, Doppler US scan of leg veins.

Low body temperature

Temperature <35°C—but confirm with low reading thermometer—it could be lower. Also confirm with rectal temperature. Initial investigations: FBC, TSH, FT4.

Main differential diagnoses and typical outline evidence, etc.

  • True hypothermia

  • due to prolonged exposure to cold or hypothyroidism

  • Suggested by: history of immersion or cold weather exposure. Temperature <35°C with low reading rectal thermometer.

  • Confirmed by: temperature chart using low reading rectal thermometer.

  • Finalized by the predictable outcome of management, e.g. rewarming patient slowly, e.g. 0.5°C/h (faster may be fatal). Ventilation, IV access, antibiotics, and bladder catheterization. Liaise with social services to prevent recurrence.

Mouth lesions

Examine lips, buccal mucosa, teeth, tongue, tonsils, and pharynx. Initial investigations: FBC.

Main differential diagnoses and typical outline evidence. etc.

Local aphthous ulcers

  • Suggested by: red, painful ulcer with associated lymph node enlargement.

  • Confirmed by: spontaneous resolution within days.

  • Finalized by the predictable outcome of management, e.g. topical oral analgesic ointment.

Local infection and gingivitis

  • Suggested by: vesicles in herpes simplex, creamy white plaques in oral candidiasis.

  • Confirmed by: spontaneous resolution or within days of oral antiseptic or antifungal treatment.

  • Finalized by the predictable outcome of management, e.g. oral antiseptic or antifungal.

Carious teeth

  • Suggested by: intermittent toothache, broken and/or severely discoloured teeth.

  • Confirmed by: formal dental examination.

  • Finalized by the predictable outcome of management, e.g. oral antiseptic, dental treatment.

Traumatic ulceration

  • Suggested by: jagged ulcers or lacerations.

  • Confirmed by: history of trauma, injury, ill-fitting dentures, shallow, painful ulcers.

  • Finalized by the predictable outcome of management, e.g. referral for dental assessment.

Vitamin deficiency e.g. B12, riboflavin, nicotinic acid

  • Suggested by: atrophic glossitis, fissured tongue; ‘raw beef’ in B12 deficiency, magenta in riboflavin deficiency.

  • Confirmed by: response to vitamin supplements.

  • Finalized by the predictable outcome of management, e.g. treat underlying conditions, e.g. malabsorption, refer to dietitian, advise well-balanced diet and vitamin supplements.

Hereditary haemorrhagic telangiectasia

  • Suggested by: telangiectasia on the face, around the mouth, on the lips and tongue, epistaxis, anaemia.

  • Confirmed by: family history and examination of relatives.

Peutz–Jegher’s syndrome (associated with intestinal polyps)

  • Suggested by: peri-oral pigmentation (not the tongue).

  • Confirmed by: finding polyps on colonoscopy.

  • Finalized by the predictable outcome of management, e.g. referral for long-term follow-up with colonoscopy and removal of any suspect lesions.

Red pharynx and tonsils

Initial investigations: FBC.

Main differential diagnoses and typical outline evidence, etc.

Viral pharyngitis

  • Suggested by: sore throat, pain on swallowing, fever, cervical lymphadenopathy, and injected fauces. ↑lymphocytes, normal, or ↓leucocytes.

  • Confirmed by: –ve throat swab for bacterial culture, dehydration: resolution within days.

  • Finalized by the predictable outcome of management, e.g. gargles/lozenges, paracetamol, etc.

Acute follicular tonsillitis (streptococcal)

  • Suggested by: severe sore throat, pain on swallowing, fever, enlarged tonsils with white patches (like strawberries and cream). Cervical lymphadenopathy, especially in angle of jaw. Fever, ↑leucocytes in WCC.

  • Confirmed by: throat swab for culture and sensitivities of organisms.

  • Finalized by the predictable outcome of management, e.g. analgesic, antibiotics, e.g. phenoxymethylpenicillin or cephalosporin or co-amoxiclav.

Infectious mononucleosis (glandular fever) due to Epstein–Barr virus

  • Suggested by: very severe throat pain with enlarged tonsils covered with grey mucoid film. Petechiae on palate. Profound malaise. Generalized lymphadenopathy, splenomegaly.

  • Confirmed by: ↑atypical lymphocytes in WBC. Paul–Bunnell or Monospot® test +ve.Viral titres.

  • Finalized by the predictable outcome of management, e.g. gargles/lozenges, analgesics, e.g. paracetamol (amoxicillin causes rash, aspirin may cause Reye syndrome).

Candidiasis of buccal or oesophageal mucosa

  • Suggested by: painful dysphagia, white plaque, history of immunosuppression/diabetes/recent antibiotics.

  • Confirmed by: oesophagoscopy showing erythema and plaques, brush cytology ± biopsy showing spores and hyphae.

  • Finalized by the predictable outcome of management, e.g. analgesics, antifungal lozenges or solutions, e.g. nystatin suspension or oral fluconazole.

Agranulocytosis e.g. antithyroid drugs

  • Suggested by: sore throat, history of taking a drug (e.g. carbimazole) or contact with noxious substance.

  • Confirmed by: low or absent neutrophil count.

  • Finalized by the predictable outcome of management, e.g. stopping offending drug, broad-spectrum antibiotics IV or PO, if febrile.

Also with oropharyngeal ulceration;

Herpes zoster infection, herpes simplex infection, local herpangina, aphthous ulceration, etc.

without oropharyngeal ulceration

Reflux oesophagitis, epiglottitis, blood dyscrasia, etc.

‘Parotid’ swelling

Swelling between anterior border of masseter muscle (teeth clenched) to lower half of ear and from zygoma to angle of jaw. Initial investigations: FBC.

Main differential diagnoses and typical outline evidence, etc.

Parotid duct obstruction (usually due to stone)

  • Suggested by: intermittent infection or no discharge from duct.

  • Confirmed by: plain X-ray showing radio-opaque stone or sialography to show filling defect.

  • Finalized by the predictable outcome of management, e.g. analgesia, surgical stone removal.

Parotid tumour

  • Suggested by: no obvious features of alterative non-malignant or infective condition.

  • Confirmed by: urgent surgical referral for biopsy or exploration.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Mumps parotitis

  • Suggested by: acute painful swelling of whole gland(s), contact with other cases.

  • Confirmed by: bilateral swelling or associated pancreatitis or orchitis (rising mumps viral titre).

  • Finalized by the predictable outcome of management, e.g. analgesia, fluids, etc.

Suppurative parotid infection

  • Suggested by: hot, tender, fluctuant swelling with high fever. No discharge from duct orifice.

  • Confirmed by: WBC: ↑neutrophils response to antibiotics, drainage.

  • Finalized by the predictable outcome of management, e.g. referral for surgery.

Non-suppurative parotitis from ascending infection along parotid duct

  • Suggested by: unilateral swelling, oral sepsis or poor general condition, fever.

  • Confirmed by: WCC: ↑neutrophils, resolution with antibiotics.

  • Finalized by the predictable outcome of management, e.g. analgesia, broad-spectrum antibiotics.

Parotid Sjögren’s syndrome

  • Suggested by: dry mouth and eyes with no tears.

  • Confirmed by: rheumatoid factor +ve, anti Ro (SSA) and anti-La (SSB) +ve.

  • Finalized by the predictable outcome of management, e.g. oral lubricants (e.g. gelatin lozenge) and eye lubricant (e.g. methylcellulose).

Parotid sarcoidosis

  • Suggested by: history of dry cough, enlarged lacrimal glands, erythema nodosum, ↑serum ACE.

  • Confirmed by: CXR appearances (e.g. bilateral lymphadenopathy) and tissue biopsy showing non-caseating granuloma.

  • Finalized by the predictable outcome of management, e.g. oral lubricants, e.g. gelatin lozenge, NSAID if associated polyarthalgia; oral steroids if associated hypercalcaemia, or lung, heart, neurological involvement.

Lump in the face (non-parotid lesion)

Main differential diagnoses and typical outline evidence, etc.

Pre-auricular lymph node inflammation

  • Suggested by: tender, nodular swelling in front of ear.

  • Confirmed by: above clinical features, spontaneous resolution, histology.

  • Finalized by the predictable outcome of management, e.g. resolution on follow up in days; if not excision biopsy.

Pre-auricular lymphoma

  • Suggested by: non-tender, nodular swelling in front of ear.

  • Confirmed by: biopsy.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Basal cell carcinoma

  • Suggested by: painless ulcer with rolled edge.

  • Confirmed by: biopsy appearance.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Sebaceous cyst

  • Suggested by: fluctuant swelling with central punctum.

  • Confirmed by: incision and content evacuation.

  • Finalized by the predictable outcome of management, e.g. no treatment, antibiotics if infected, surgical excision if persistent.

Subcutaneous abscess

  • Suggested by: tender fluctuant swelling.

  • Confirmed by: incision when pointing.

  • Finalized by the predictable outcome of management, e.g. incision ± antibiotic.

Dental abscess

  • Suggested by: tenderness of underlying tooth (tap gently).

  • Confirmed by: dental exploration.

  • Finalized by the predictable outcome of management, e.g. dental surgery.

Skin melanoma

  • Suggested by: painless swelling with pigment and red edge.

  • Confirmed by: wide excision biopsy and histology.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Submandibular lump—not moving with tongue protrusion or on swallowing

Below the mandible and above the digastric muscle. Initial investigations: FBC.

Main differential diagnoses and typical outline evidence, etc.

Mumps sialitis

  • Suggested by: acute painful swelling of whole gland(s), contact with others cases.

  • Confirmed by: bilateral swelling or associated pancreatitis or orchitis. (↑mumps titre if in doubt.)

  • Finalized by the predictable outcome of management, e.g. analgesia, maintain hydration.

Non-suppurative sialitis from ascending infection along duct

  • Suggested by: unilateral swelling, oral sepsis, or poor general condition.

  • Confirmed by: discharge from duct orifice. Resolution with antibiotics.

  • Finalized by the predictable outcome of management, e.g. rehydration, antibiotics, oral hygiene, lemon drops to stimulate saliva production, surgical drainage if intractable.

Suppurative salivary infection

  • Suggested by: hot, tender, fluctuant swelling with high fever. No discharge from duct orifice.

  • Confirmed by: US scan appearance.

  • Finalized by the predictable outcome of management, e.g. incision and drainage ± antibiotics.

Salivary duct obstruction (usually due to stone)

  • Suggested by: intermittent infection or no discharge from duct.

  • Confirmed by: US scan, response to stomaplasty.

  • Finalized by the predictable outcome of management, e.g. rehydration, analgesia, and antibiotics if fever and ↑WCC, awaiting spontaneous passage of small stone; surgical removal if large.

Salivary Sjögren’s syndrome

  • Suggested by: dry mouth and eyes with no tears.

  • Confirmed by: rheumatoid factor +ve, anti-Ro (SSA) and anti-La (SSB) +ve.

  • Finalized by the predictable outcome of management, e.g. oral lubricants (e.g. gelatin lozenge) and eye lubricant (e.g. methylcellulose).

Salivary sarcoidosis

  • Suggested by: dry cough, enlarged lacrimal glands, and erythema nodosum.

  • Confirmed by: CXR appearances (e.g. bilateral lymphadenopathy) and tissue biopsy showing non-caseating granuloma.

  • Finalized by the predictable outcome of management, e.g. oral lubricants, e.g. gelatin lozenge, NSAID if associated polyarthalgia; oral steroids if associated hypercalcaemia, or lung, heart, neurological involvement.

Salivary tumour due to adenocarcinoma, squamous cell tumour, etc.

  • Suggested by: no obvious features of alternative non-malignant or infective condition.

  • Confirmed by: biopsy or surgical exploration.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Submandibular lymph node inflammation

  • Suggested by: tender, solid, nodular swelling between rami of mandible, especially <20y of age.

  • Confirmed by: above clinical features or US scan.

  • Finalized by the predictable outcome of management, e.g. resolution within days.

Submandibular lymph node malignancy

  • Suggested by: non-tender, solid nodular swelling between rami of mandible, especially age >20y.

  • Confirmed by: US scan, biopsy appearance.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Ranula

  • Suggested by: transilluminable cyst lateral to midline, with domed, bluish discoloration in floor of mouth lateral to frenulum.

  • Confirmed by: clinical appearance, US scan, and histology after excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Submental dermoid

  • Suggested by: midline cyst and age <20 years.

  • Confirmed by: histology after excison.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Anterior neck lump—moving with tongue protrusion and swallowing

Suggests extrathyroid tissue. Initial investigations: ultrasound (US) scan.

Main differential diagnoses and typical outline evidence, etc.

Thyroglossal cyst

  • Suggested by: fluctuant, cystic lump in midline or just to the left.

  • Confirmed by:

  • US scan shows cystic lesion, radioisotope scan (cyst is cold), CT scan, histology of excised tissue.

  • Finalized by the predictable outcome of management, e.g. surgical excision showing cyst.

Ectopic thyroid tissue

  • Suggested by: solid lump in midline or just laterally.

  • Confirmed by:

  • US scan shows non-cystic lesion, radioisotope scan: nodule taking up iodine, CT scan, histology of excised tissue.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Neck lump—moving with swallowing but not with tongue protrusion

Suggests a goitre (or something attached to thyroid gland).

The following are preliminary diagnoses (see alsoGeneral and endocrine symptoms and physical signs Bilateral neck mass—moving with swallowing but not with tongue protrusion, p.[link]). Initial investigations: TSH, FT4.

Main differential diagnoses and typical outline evidence, etc.

Thyrotoxic goitre

  • Suggested by: sweating, fine tremor, tachycardia, weight loss, lid lag.

  • Confirmed by: ↑FT4 ± ↑FT3 and ↓↓TSH. US scan appearance, isotope scan appearance.

  • Finalized by the predictable outcome of management, e.g. propranolol to control symptoms, carbimazole 40mg od reduced to 5–15mg over 1–3mo period. FBC before starting treatment, warning about agranulocytosis, sore throat.

Hypothyroid goitre

  • Suggested by: cold intolerance, tiredness, constipation, bradycardia.

  • Confirmed by:TSH, ↓FT4. US scan ± thyroid antibodies +ve.

  • Finalized by the predictable outcome of management, e.g. levothyroxine 25–50 micrograms od. Regular checks on TFT to keep in normal range.

Euthyroid goitre

  • Suggested by: absence of sweating, fine tremor, weight change, cold intolerance, tiredness, lid lag; normal bowel habit, normal pulse rate.

  • Confirmed by: normal FT4, and normal TSH.

  • Finalized by the predictable outcome of management, e.g. no treatment or surgery if causing symptoms of compression in neck or thoracic inlet.

Bilateral neck mass—moving with swallowing but not with tongue protrusion

(Central mass crossing the midline.) Initial investigations: TSH, FT4, ultrasound scan of goitre.

Main differential diagnoses and typical outline evidence, etc.

Graves’ disease

  • Suggested by: clinical thyrotoxicosis, exophthalmos, pretibial myxoedema. No nodules.

  • Confirmed by:FT4 or ↑FT3 and ↓TSH and TSH receptor antibody +ve. Diffusely increased uptake on thyroid isotope scan.

  • Finalized by the predictable outcome of management, e.g. propranolol 40–80mg 8 hourly to control symptoms. Carbimazole 40mg od reduced to 5–10mg over 1–3mo with monthly TFT. FBC before starting. Written warning for agranulocytosis causing sore throat. Radioiodine or thyroidectomy offered if relapse after 6–18mo carbimazole.

Hashimoto’s thyroiditis

  • Suggested by: clinically euthyroid or hypothyroid (or rarely transient thyrotoxicosis). Multiple nodules in large gland.

  • Confirmed by:FT4 transiently then ↓FT4 and ↑TSH,↑↑thyroid antibody titre. Diffuse poor uptake on thyroid isotope scan.

  • Finalized by the predictable outcome of management, e.g. analgesic, oral steroid if persistent pain. Thyroxine if TSH persistently.

‘Simple’ goitre

  • Suggested by: clinically euthyroid. Not nodular.

  • Confirmed by: FT4 and FT3 normal, TSH normal and thyroid antibodies –ve.

  • Finalized by the predictable outcome of management, e.g. reassurance, no change with no treatment.

Toxic multinodular goitre

  • Suggested by: multiple nodules and clinically thyrotoxic.

  • Confirmed by:↑FT4 or ↑FT3, and ↓TSH and nodules on US scan or thyroid isotope scan.

  • Finalized by the predictable outcome of management, e.g. carbimazole (±β-blocker for symptoms), radioiodine (but not used if compression of adjacent structures in the neck and thoracic inlet); surgery instead.

Non-toxic multinodular goitre

  • Suggested by: multiple nodules, clinically euthyroid.

  • Confirmed by: FT4 or FT3 normal, TSH normal. Nodules on US scan or thyroid isotope scan.

  • Finalized by the predictable outcome of management, e.g. of surgery if symptomatic.

Thyroid enzyme deficiency (rare)

  • Suggested by: presentation in childhood, clinically hypothyroid or euthyroid. Smooth goitre, not nodular.

  • Confirmed by: ↓FT4 and ↓TSH but with abnormal (high or low) radioiodine uptake. Thyroid antibodies –ve.

  • Finalized by the predictable outcome of management, e.g. thyroxine replacement.

Solitary thyroid nodule

Initial investigations: TSH, FT4, ultrasound scan of thyroid.

Main differential diagnoses and typical outline evidence, etc.

Autonomous toxic thyroid nodule

  • Suggested by: single nodule and ‘clinically thyrotoxic’: weight loss, frequent bowel movement, tachycardia, sweats, tremor.

  • Confirmed by:FT4 or ↑FT3, ↓TSH, and single, hot nodule thyroid isotope (iodine or technetium) scan.

  • Finalized by the predictable outcome of management, e.g. radioactive iodine therapy (treatment of choice) controlling symptoms with β-blocker ± carbimazole until euthyroid.

Thyroid carcinoma: papillary 60%, follicular 25%, medullary 5%, lymphoma 5%, anaplastic <1%

  • Suggested by: single nodule and clinically euthyoid.

  • Confirmed by: normal FT4 or FT3, normal TSH, and single, cold nodule thyroid isotope scan. Solid on US scan. Malignant cells on needle aspiration or excision.

  • Finalized by the predictable outcome of management, e.g. total thyroidectomy, radioactive iodine for residual tissue and any tumour with follow-up scans and serum thyroglobulin, and eradication of any recurrence.

Thyroid adenoma

  • Suggested by: single nodule and clinically euthyoid.

  • Confirmed by: normal FT4 or FT3, normal TSH, and single, cold nodule thyroid isotope scan. Solid on US thyroid scan. No malignant cells on needle aspiration or excision.

  • Finalized by the predictable outcome of management, e.g. partial thyroidectomy.

Thyroid cyst

  • Suggested by: single nodule and clinically euthyoid.

  • Confirmed by: normal FT4 or FT3, normal TSH, and single, cold nodule thyroid isotope scan. Cyst on US scan. Disappears on needle aspiration and no malignant cells then or if removed.

  • Finalized by the predictable outcome of management, e.g. needle aspiration and surgery if persistent recurrence.

Lump in anterior triangle of neck

Below digastric and anterior to sternomastoid muscles. Initial investigations: FBC, ultrasound scan.

Main differential diagnoses and typical outline evidence, etc.

Lymph node inflammation

  • Suggested by: tender, solid nodular swelling.

  • Confirmed by: above clinical features, CT scan.

  • Finalized by the predictable outcome of management, e.g. reassurance, follow-up until resolved ± treatment of underlying cause.

Acute abscess

  • Suggested by: hot, tender, fluctuant swelling with high fever, WCC: ↑neutrophils.

  • Confirmed by: clinical features and discharge of pus after incision.

  • Finalized by the predictable outcome of management, e.g. incision ± antibiotics.

Tuberculosis (‘cold’) abscess

  • Suggested by: fluctuant swelling with low grade or no fever.

  • Confirmed by: acid-fast bacilli (AFB) on microscopy or culture and sensitivity of aspirate.

  • Finalized by the predictable outcome of management, e.g. provisional treatment with isoniazid, pyrazinamide, rifampicin and ethambutol for 2mo ± pyridoxine pending result of culture and sensitivity; contact tracing.

Branchial cyst

  • Suggested by: fluctuant swelling at anterior border of sternomastoid muscle, <20y of age.

  • Confirmed by: US scan, CT scan, surgical anatomy, appearance and histology on excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Cystic hygroma

  • Suggested by: fluctuant swelling that transilluminates well, <20y of age.

  • Confirmed by: US scan, CT scan, surgical anatomy, appearance and histology on excision, or regression with sclerosant.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Pharyngeal pouch

  • Suggested by: intermittent, fluctuant swelling (usually on left) and dysphagia.

  • Confirmed by: barium swallow fills pouch.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Carotid body tumour (chemodectoma)

  • Suggested by: mobile, arising from carotid bifurcation (upper third of sternomastoid), soft, and gently pulsatile.

  • Confirmed by: US scan, CT scan, surgical anatomy, appearance and histology after excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Hodgkin’s or non- Hodgkin’s Iymphoma

  • Suggested by: non-tender, solid nodular swelling between rami of mandible, especially >20y of age ± fever, weight loss. Chest pain with alcohol in Hodgkin’s.

  • Confirmed by: US scan, CT scan, biopsy with or without or excision.

  • Finalized by the predictable outcome of management, e.g. radiotherapy or chemotherapy depending on the stage of disease.

Lump in posterior triangle of neck

Behind sternomastoid and in front of trapezius. Initial investigations: FBC, ultrasound scan.

Main differential diagnoses and typical outline evidence, etc.

Acute abscess

  • Suggested by: hot, tender fluctuant swelling with high fever, WCC: ↑neutrophils.

  • Confirmed by: clinical features and discharge of pus after incision.

  • Finalized by the predictable outcome of management: incision ± antibiotics.

Cystic hygroma

  • Suggested by: fluctuant swelling that transilluminates well, <20y of age.

  • Confirmed by: US scan, CT scan, surgical anatomy, appearance and histology on excision, or regression with sclerosant.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Lymph node inflammation

  • Suggested by: tender, solid nodular swelling.

  • Confirmed by: above clinical features, US scan.

  • Finalized by the predictable outcome of management, e.g. reassurance, follow-up until resolved.

Hodgkin’s or non-Hodgkin’s Iymphoma

  • Suggested by: non-tender, solid nodular swelling. Chest pain with alcohol in Hodgkin’s.

  • Confirmed by: US scan, CT scan, biopsy with or without or excision.

  • Finalized by the predictable outcome of management, e.g. plan radiotherapy or chemotherapy depending on stage of disease.

Metastasis in lymph node

  • Suggested by: non-tender, solid nodular swelling.

  • Confirmed by: US scan, CT scan, biopsy ± excision.

  • Finalized by the predictable outcome of management, e.g. plan radiotherapy or chemotherapy depending on stage of disease.

Tuberculous (‘cold’) abscess

  • Suggested by: non-tender, cystic swelling >50y of age.

  • Confirmed by: US scan, CT scan, aspiration biopsy or excision, culture of AFB.

  • Finalized by the predictable outcome of management, e.g. provisional treatment with isoniazid, pyrazinamide, rifampicin and ethambutol for 2mo ±pyridoxine pending result of culture and sensitivity; contact tracing.

Supraclavicular lump(s)

Initial investigations: ultrasound scan.

Main differential diagnoses and typical outline evidence, etc.

Lymph node inflammation

  • Suggested by: tender, solid nodular swelling, especially <20y of age.

  • Confirmed by: clinical features. US scan: solid lesion.

  • Finalized by the predictable outcome of management, e.g. reassurance, follow-up to ensure resolution.

Lymphoma

  • Suggested by: rubbery, matted nodes.

  • Confirmed by: lymph node biopsy.

  • Finalized by the predictable outcome of management, e.g. radiotherapy or chemotherapy depending on stage.

Lymph node secondary to gastric or lung carcinoma

  • Suggested by: rock-hard, fixed nodes, Virchow’s node in left supraclavicular fossa (Troisier’s sign).

  • Confirmed by: lymph node biopsy, gastroscopy, bronchoscopy.

  • Finalized by the predictable outcome of management, e.g. radiotherapy or chemotherapy depending on primary source and stage.

Aneurysm of subclavian artery

  • Suggested by: pulsatile cyst.

  • Confirmed by: US scan and MRI scan or angiography.

  • Finalized by the predictable outcome of management, e.g. surgical excision and repair.

Galactorrhoea

Spontaneous or expressible milky fluid. Initial investigations: prolactin, TSH, FT4, pregnancy test.

Main differential diagnoses and typical outline evidence, etc.

1° hyperprolactinaemia

  • Suggested by: infertility, oligomenorrhoea, or amenorrhoea.

  • Confirmed by:prolactin and normal TSH and T4. Pituitary CT or MRI scan: normal.

  • Finalized by the predictable outcome of management: dopamine agonists, e.g. long-term bromocriptine or cabergoline.

Prolactinoma

  • Suggested by: infertility, oligomenorrhoea, or amenorrhoea. In large tumours, field defects and loss of secondary sexual characteristics.

  • Confirmed by:prolactin and normal TSH and T4. Micro- or macro-adenoma on pituitary CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. dopamine agonist, e.g. bromocriptine and cabergoline. Surgical intervention if intolerance to medical treatment or presence of field defect or other pressure effects.

Pregnancy

  • Suggested by: amenorrhoea, frequency of urine in woman of childbearing age.

  • Confirmed by: pregnancy test +ve.

  • Finalized by the predictable outcome of management, e.g. progression of pregnancy.

1° hypothyroidism

  • Suggested by: cold intolerance, tiredness, constipation, bradycardia.

  • Confirmed by:TSH,FT4.

  • Finalized by the predictable outcome of management, e.g. levothyroxine, e.g. 50 micrograms od. Check TFT after 1–2mo and titrate dose.

Drugs

  • Suggested by: taking chlorpromazine and other major tranquilizers, metoclopramide, domperidone.

  • Confirmed by:prolactin, resolution and lowering of prolactin after stopping suspect drug.

  • Finalized by the predictable outcome of management, e.g. stop causative drug.

‘Idiopathic galactorrhoea’

  • Suggested by: galactorrhoea, no other findings.

  • Confirmed by: normal prolactin.

  • Finalized by the predictable outcome of management, e.g. short course (e.g. 4wk) of dopamine agonists, e.g. cabergoline.

Nipple abnormality

Initial investigations: swab of discharge, culture, and sensitivity.

Main differential diagnoses and typical outline evidence, etc.

Paget’s disease of nipple with underlying carcinoma

  • Suggested by: breast nipple ‘eczema’.

  • Confirmed by: in situ malignant change on histological examination of skin scrapings.

  • Finalized by the predictable outcome of management, e.g. surgical excision or mastectomy combined with endocrine therapy and chemotherapy.

Duct ectasia and chronic infection

  • Suggested by: green or brown nipple discharge.

  • Confirmed by: chronic inflammation on histology of excised ducts.

  • Finalized by the predictable outcome of management, e.g. analgesics for breast pain, surgical excision of lumps, antibiotics for infection.

Duct papilloma

  • Suggested by: bleeding from nipple.

  • Confirmed by: excision of affected ducts. Benign histology of excised ducts.

  • Finalized by the predictable outcome of management, e.g. surgical referral for excision of affected ducts.

Mammillary fistula

  • Suggested by: discharge from para-areolar region aged 30–40.

  • Confirmed by: benign histology of excised ducts.

  • Finalized by the predictable outcome of management, e.g. surgical excision of affected ducts.

Breast lump(s)

Initial investigations: mammography, ultrasound, and fine needle aspiration.

Main differential diagnoses and typical outline evidence, etc.

Benign fibrous mammary dysplasia

  • Suggested by: generally painful breast lumpiness, greatest near axilla. Cyclically related to periods.

  • Confirmed by: relief on aspiration of cysts, diuretics or oestrogen suppression.

  • Finalized by the predictable outcome of management, e.g. aspiration of cysts.

Fibroadenoma

  • Suggested by: smooth and mobile lump (‘breast mouse’), usually in ages 15–30y.

  • Confirmed by: appearance on mammogram confirmed by benign histology after excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision of adenoma.

Cyst(s)

  • Suggested by: spherical, fluctuant lump, single or multiple, painful before periods.

  • Confirmed by: cysts on mammography, benign tissue after excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision of cyst.

Acute or chronic abscess

  • Suggested by: fluctuant lump, hot and tender, acute presentation often in puerperium, chronic after antibiotics.

  • Confirmed by: response to drainage, exision of chronic abscess, and histology to exclude carcinoma.

  • Finalized by the predictable outcome of management, e.g. surgical drainage.

Fat necrosis or sclerosing adenosis

  • Suggested by: firm, solitary localized lump.

  • Confirmed by: appearance on mammogram and benign histology after excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision of affected tissue.

Carcinoma infiltrating ductal cancer or invasive lobar cancers

  • Suggested by: fixed, irregular, hard, painless lump, nipple retraction, fixed to skin (peau d’orange) or muscle, and local, hard or firm, fixed nodes in axilla.

  • Confirmed by: mammography showing ill-defined, spiculate borders, faint linear or irregular calcification, and abnormal adjacent structures. Malignant histology after breast aspiration or excision.

  • Finalized by the predictable outcome of management, e.g. surgical excision.

Gynaecomastia

This is usually reported by the patient or sometimes discovered during the general examination. Breast swelling in males is a palpable disc of firm tissue. If there is no disc, it suggests fatty tissue only. Initial investigations: LH, FSH, plasma testosterone, oestrogens.

Main differential diagnoses and typical outline evidence, etc.

Immature testis

  • Suggested by: adolescence and no testicular lump.

  • Confirmed by: normal testosterone, oestrogen and LH levels normal, US scan of testis.

  • Finalized by the predictable outcome of management, e.g. resolution after explanation and reassurance that spontaneous resolution can be expected over months.

Digoxin, spironolactone

  • Suggested by: taking of drug and no testicular lump.

  • Confirmed by: improvement when suspect drug stopped.

High alcohol intake

  • Suggested by: high alcohol intake and no testicular lump.

  • Confirmed by: improvement when alcohol stopped.

Hepatic cirrhosis

  • Suggested by: long history of high alcohol intake (usually), spider naevi, abnormal liver size (large or small) and consistency (fatty or hard).

  • Confirmed by: LFT abnormal, ↓LH, ↑oestrogens, ↓testosterone.

  • Finalized by the predictable outcome of management, e.g. dietary and alcohol advice, avoidance of sedatives and opiates. Vitamin K ifprothrombin time. Colestyramine for pruritus. Spironolactone ± furosemide for oedema, ascites. Interferon alfa to delay development of hepatoma.

Testicular tumours

  • Suggested by: scrotal mass ± pain, tenderness if haemorrhage occurs (sometimes in undescended testis).

  • Confirmed by: testicular US scan, inguinal exploration, ↑alpha-fetoprotein, ↑β-hCG.

  • Finalized by the predictable outcome of management, e.g. orchidectomy, radiotherapy or chemotherapy. (Seminomas are radiosensitive, teratomas sensitive to combination chemotherapy.)

  • Hypogonadism

  • (1° testicular disease, or 2° to low LH from pituitary defect or tumour)

  • Suggested by: sparse pubic hair, no drug or alcohol history, poor libido.

  • Confirmed by: low testosterone, ↑LH (in primary testicular disease), ↓LH or normal (if secondary to pituitary diseases).

  • Finalized by the predictable outcome of management, e.g. testosterone replacement therapy IM, gel, patch, or depot injection.

Bronchial carcinoma

  • Suggested by: smoking history, haemoptysis, weight loss, clubbing.

  • Confirmed by:

  • CXR, bronchoscopy with biopsy.Finalized by the predictable outcome of management, e.g. surgical resection combined with radiotherapy or chemotherapy.

Klinefelter’s syndrome

  • Suggested by: poor sexual development, infertility, eunuchoid.

  • Confirmed by: 47, XXY karyotype.

  • Finalized by the predictable outcome of management, e.g. testosterone replacement therapy IM, gel, patch, or depot injection.

Obesity

  • Suggested by: no breast tissue, only mammary fat.

  • Confirmed by: improvement with weight loss.

  • Finalized by the predictable outcome of management, e.g. lifestyle changes; diet and exercise, drug and surgical treatment, e.g. gastric banding, if intractable and life-threatening.

Axillary lymphadenopathy

Axillary lymphadenopathy ± tenderness. Initial investigations: FBC, CRP, ESR, lymph node biopsy.

Main differential diagnoses and typical outline evidence, etc.

Reaction to infection, e.g. viral prodrome, HIV infection, etc.

  • Suggested by: tender, solid nodular swelling(s).

  • Confirmed by: clinical features.

  • Finalized by the predictable outcome of management, e.g. identifying underlying cause and treating it if necessary.

Infiltration by tumour, e.g. breast

  • Suggested by: non-tender, solid nodular swelling(s).

  • Confirmed by: excision biopsy.

  • Finalized by the predictable outcome of management, e.g. identifying underlying cause and treating it if necessary.

Reticulosis or primary tumour

  • Suggested by: non-tender, solid nodular swelling(s).

  • Confirmed by: excision biopsy.

  • Finalized by the predictable outcome of management, e.g. identifying underlying cause and treating it if necessary.

Drug effect

  • Suggested by: drug history, e.g. phenytoin, retroviral drugs.

  • Confirmed by: improvement when drug withdrawn.

  • Finalized by the predictable outcome of management, e.g. stopping suspect drug.

Hirsutism in a female

Upward extension of pubic hair in female. Hirsute upper lip, sideburns, chin. Initial investigations: plasma LH, FSH, testosterone, SHBG, ultrasound scan ovaries.

Main differential diagnoses and typical outline evidence, etc.

Racial skin sensitivity

  • Suggested by: family history, normal menstrual periods (and fertility if applicable).

  • Confirmed by: LH normal, testosterone normal.

  • Finalized by the predictable outcome of management, e.g. explanation, recommend cosmetic measures.

Polycystic ovary syndrome

  • Suggested by: gradual increase in hirsutism since puberty, thin head hair, irregular periods, infertility.

  • Confirmed by:testosterone, ↓SHBG, ↑LH (tests done in follicular phase of menstrual cycle). US scan showing cystic ovaries.

  • Finalized by the predictable outcome of management, e.g. metformin to reduce insulin resistance, combined oestrogen ‘pill’ to ↑SHBG and ↓free androgen, with cyproterone for hirsutism. Clomiphene to induce ovulation.

Ovarian or adrenal carcinoma

  • Suggested by: change in hair pattern over months, voice deepening, breast atrophy, no periods, cliteromegaly.

  • Confirmed by:LH and↑↑testosterone. US scan and laparoscopy findings.

  • Finalized by the predictable outcome of management, e.g. surgical removal of adrenal or ovary-containing tumour.

Cushing’s disease (ACTH driven)

  • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump. Pigmented creases (suggest ↑ACTH, especially in ectopic ACTH from a carcinoma or carcinoid tumour). ↑24h urinary free cortisol.

  • Confirmed by: 2x ↑midnight cortisol and ↑midnight ACTH and failure to suppress cortisol after dexamethazone 0.5mg 6 hourly for 48h (but does suppress after 2mg 6 hourly for 48 hours) and bilaterally large adrenals on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until response to surgery. Removal of pituitary adenoma or bilateral adrenalectomy if source not identified.

Cushing’s syndrome due to adrenal adenoma or carcinoma

  • Suggested by: truncal obesity, purple striae, and bruising. No pigmentation in skin creases. i24h urinary free cortisol.

  • Confirmed by: 2x imidnight cortisol and dmidnight ACTH and failure to suppress cortisol after dexamethazone suppression test 0.5mg 6 hourly for 48h and after 2mg 6 hourly for 48h, and unilateral large adrenal on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until surgical treatment successful. Adrenalectomy for adenoma and carcinoma, also radiotherapy.

Abdominal striae

White striae are healed pink or purple striae. Initial investigations: pregnancy test, 24 hour urinary free cortisol.

  • Pink striae

    Main differential diagnoses and typical outline evidence, etc.

    Pregnancy

    • Suggested by: no periods and obvious pregnant uterus.

    • Confirmed by: pregnancy test +ve and US scan abdomen/pelvis.

    • Finalized by the predictable outcome of management, e.g. progress of pregnancy.

    Simple obesity

    • Suggested by: large abdomen and usually rapid weight increase.

    • Confirmed by: above clinical findings.

    • Finalized by the predictable outcome of management, e.g. lifestyle changes, diet, and exercise.

  • Purple striae

    Main differential diagnoses and typical outline evidence, etc.

    Glucocorticoid steroid therapy

    • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump.

    • Confirmed by: drug history: taking high dose of glucocorticoid.

    • Finalized by the predictable outcome of management, e.g. stopping medication if appropriate.

    Cushing’s disease (ACTH driven)

    • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump. Pigmented creases (suggest ↑ACTH, especially in ectopic ACTH from a carcinoma or carcinoid tumour). ↑24h urinary free cortisol.

    • Confirmed by: 2x ↑midnight cortisol and ↑midnight ACTH and failure to suppress cortisol after dexamethasone 0.5mg 6 hourly for 48h (but does suppress after 2mg 6 hourly for 48 hours) and bilaterally large adrenals on CT or MRI scan.

    • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until response to surgery. Removal of pituitary adenoma or bilateral adrenalectomy if source not identified.

    Cushing’s syndrome due to adrenal adenoma or carcinoma

    • Suggested by: truncal obesity, purple striae, and bruising. No pigmentation in skin creases. ↑24h urinary free cortisol.

    • Confirmed by: 2x ↑midnight cortisol and ↓midnight ACTH and failure to suppress cortisol after dexamethasone suppression test 0.5mg 6 hourly for 48h and after 2mg 6 hourly for 48h, and unilateral large adrenal on CT or MRI scan.

    • Finalized by the predictable outcome of management, e.g. initial control with metopirone until surgical treatment successful. Adrenalectomy for adenoma and carcinoma, also radiotherapy.

Obesity

Definition: BMI >30kgm2. Initial investigations: TSH, FT4, 24h urinary free cortisol.

Main differential diagnoses and typical outline evidence, etc.

Simple obesity

  • Suggested by: limb and truncal obesity.

  • Confirmed by: TSH and FT4 normal. 24h urinary cortisol normal.

  • Finalized by the predictable outcome of management, e.g. lifestyle changes, dieting, and exercise. Medical and surgical treatment for appropriate candidates.

Hypothyroidism

  • Suggested by: cold intolerance, tiredness, ↑constipation, bradycardia.

  • Confirmed by:TSH, ↓FT4.

  • Finalized by the predictable outcome of management, e.g. levothyroxine 50 micrograms/d, assessing clinically and TSH after 4–8wk, aiming TSH to be normal (not suppressed). For elderly or in angina, beginning with half the dose of levothyroxine.

Cushing’s disease (ACTH driven)

  • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump. Pigmented creases (suggest ↑ACTH, especially in ectopic ACTH from a carcinoma or carcinoid tumour). ↑24h urinary free cortisol.

  • Confirmed by: 2x ↑midnight cortisol and ↑midnight ACTH and failure to suppress cortisol after dexamethasone 0.5mg 6 hourly for 48h (but does suppress after 2mg 6 hourly for 48h) and bilaterally large adrenals on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until response to surgery. Removal of pituitary adenoma or bilateral adrenalectomy if source not identified.

Cushing’s syndrome due to adrenal adenoma or carcinoma

  • Suggested by: truncal obesity, purple striae, and bruising. No pigmentation in skin creases. ↑24h urinary free cortisol.

  • Confirmed by: 2x ↑midnight cortisol and ↓midnight ACTH and failure to suppress cortisol after dexamethasone suppression test 0.5mg 6 hourly for 48h and after 2mg 6 hourly for 48h, and unilateral large adrenal on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until surgical treatment successful. Adrenalectomy for adenoma and carcinoma, also radiotherapy.

Pigmented creases and flexures (and buccal mucosa)

Suggests excess ACTH secretion. Initial investigations: U&E, 9a.m. fasting cortisol, 24h urinary free cortisol.

Main differentials, typical outline evidence & initial management

Addison’s disease = 1° adrenal failure due to autoimmune destruction or TB

  • Suggested by: fatigue, ↓BP, and postural drop.

  • Confirmed by: ↓9a.m. cortisol with poor response to Synacthen® stimulation test and ↑ACTH.

  • Finalized by the predictable outcome of management, e.g. hydrocortisone (e.g. 10mg a.m. and 5mg p.m.) and fludrocortisone 50–200 micrograms. Supply of steroid deficiency warning card. Hydrocortisone IM if oral therapy not possible.

Cushing’s disease (ACTH-driven)

  • Suggested by: truncal obesity, purple striae, bruising, moon face, and buffalo hump. Pigmented creases (suggest ↑ACTH, especially in ectopic ACTH from a carcinoma or carcinoid tumour). ↓24h urinary free cortisol.

  • Confirmed by: 2x ↑midnight cortisol and failure to suppress cortisol after dexamethasone 0.5mg 6 hourly for 48h, and ↑midnight ACTH and bilaterally large adrenals on CT or MRI scan.

  • Finalized by the predictable outcome of management, e.g. initial control with metyrapone until response to surgery. Removal of pituitary adenoma or bilateral adrenalectomy if source not identified.

Ectopic ACTH secretion

  • Suggested by: general weakness, proximal myopathy, usually evidence of lung cancer or other malignancy.

  • Confirmed by: ↓serum potassium, 2x ↑midnight cortisol, and ↑ACTH.

  • Finalized by the predictable outcome of management, e.g. metopirone to reduce cortisol production. Surgical treatment if tumour source of ACTH can be localized or bilateral adrenalectomy if tumour source cannot be localized.

Spider naevi

Red, pinhead-sized spots with radiating blood vessels that empty when centre pressed by pinhead-sized object. Initial investigations: pregnancy test, LFTs.

Main differential diagnoses and typical outline evidence, etc.

Normal

  • Suggested by: small numbers on chest (<3), usually in a young woman on chest and upper back.

  • Confirmed by: no increase with time.

  • Finalized by the predictable outcome of management, e.g. no change if left alone, explanation, and reassurance.

Taking oestrogens

  • Suggested by: small numbers on chest in a young woman on pill.

  • Confirmed by: decrease when pill stopped in due course (no urgency).

  • Finalized by the predictable outcome of management, e.g. after stopping.

Pregnancy

  • Suggested by: moderate numbers in a pregnant woman.

  • Confirmed by: decrease when pregnancy over.

  • Finalized by the predictable outcome of management, e.g. explanation and reassurance only.

Liver failure

  • Suggested by: large numbers on chest, also on neck and face, jaundice, features of liver failure.

  • Confirmed by:albumin, ↑prothrombin time.

  • Finalized by the predictable outcome of management, e.g. explanation, no alcohol, dietary advice, vitamin K if ↑prothrombin time, low-salt diet if ascites, anti-flu and pneumococcal vaccination, colestyramine for pruritus.

Thin, wasted, cachectic

Initial investigations: FBC, TSH, FT4.

Main differential diagnoses and typical outline evidence, etc.

Low calorie intake, e.g. anorexia nervosa, alcoholism, drug abuse, any prolonged systemic illness, e.g. severe COPD

  • Suggested by: dietary history.

  • Confirmed by: dietitian’s assessment, as inpatient if necessary.

  • Finalized by the predictable outcome of management, e.g. controlled balanced diet with food chart to document intake, twice weekly weighing.

Thyrotoxicosis

  • Suggested by: normal or increased appetite plus weight loss despite adequate intake, frequent loose bowel movement, lid retraction and lag, sweats, tachycardia.

  • Confirmed by: ↓TSH, ↑FT4 and/or ↑FT3.

  • Finalized by the predictable outcome of management, e.g. propranolol to control symptoms, antithyroid drugs, e.g. carbimazole; radioiodine for hot nodules or radioiodine or surgery if relapse after 6–18mo course.

AIDS

  • Suggested by: signs of opportunistic infection, e.g. oral candidiasis, oral hairy leukoplakia, Kaposi’s sarcoma, lymphadenopathy.

  • Confirmed by: detection of HIV antibodies in serum, HIV RNA in plasma.

  • Finalized by the predictable outcome of management, e.g. chemotherapy using anti-retroviral therapy, chemoprophylaxis against opportunistic infections, e.g. TB, and general and sexual health advice.

Malignancy

  • Suggested by: progressive weight loss and malaise, poor appetite.

  • Confirmed by: metastases in liver on US scan, bone 2° on plain X-rays, 1°tumour on upper or lower GI endoscopy, bronchoscopy, etc.

  • Finalized by the predictable outcome of management, e.g. surgery or chemotherapy or radiotherapy, depending on nature of primary source and staging of disease.

TB

  • Suggested by: cough, night sweats, haemoptysis, CXR: abnormal shadowing.

  • Confirmed by: AFB in sputum on microscopy, mycobacteria on culture, response to antibiotics.

  • Finalized by the predictable outcome of management, e.g. provisional treatment with isoniazid, pyrazinamide, rifampicin and ethambutol for 2mo pending result of culture and sensitivity. Pyridoxine if malnourished; contact tracing.

Purpura

Covers a spectrum from small pinpoint petechiae to large areas of ‘bruising’ in skin; do not blanch when compressed. Initial investigations: FBC, ESR, clotting (PT/INR).

Main differential diagnoses and typical outline evidence, etc.

  • Thrombocytopenia

  • due to autoimmune process or idiopathic

  • (ITP), SLE

  • Suggested by: petechiae, haemorrhagic manifestations, e.g. epistaxis, and history of associated condition, e.g. viral illness.

  • Confirmed by:platelet count but RBC and WCC normal. No splenomegaly and normal bone marrow examination; platelets antibodies +ve.

  • Finalized by the predictable outcome of management, e.g. for mild cases (e.g. platelets >20x109 or no haemorrhagic manifestations): observation only. Otherwise, oral steroids over 2wk, then tapered over months ± immunoglobulin, immunosuppressants, and splenectomy.

  • Pancytopenia

  • due to aplastic anaemia, hypersplenism, myelodysplasia, disseminated intravascular coagulation

  • Suggested by: petechiae and history of associated condition.

  • Confirmed by:platelet count,↓WCC,↓Hb.

  • Finalized by the predictable outcome of management, e.g. prompt treatment of infections, prophylactic antibiotics, and antifungal agents, ± oral steroids and immunoglobulin IV.

  • Platelet dysfunction

  • due to aspirin, NSAIDs, renal failure

  • Suggested by: bruising and drug history.

  • Confirmed by: reduced bruising when suspected drug stopped or other cause removed.

  • Finalized by the predictable outcome of management, e.g. stopping suspected drug or treating potential cause.

  • Congenital vasculopathy

  • due to Osler–Weber–Rendu syndrome, etc.

  • Suggested by: bruising from punctiform malformations on mucous membranes. Nose bleeds, gastrointestinal (GI) bleeding.

  • Confirmed by: clinical findings, and normal platelet count and clotting.

  • Finalized by the predictable outcome of management, e.g. topical oestrogen.

  • Acquired vasculopathy

  • senile changes, autoimmune vasculitis (Henoch–Schönlein), steroids, scurvy

  • Suggested by: bruising into associated thin skin with atrophied subcutaneous tissue.

  • Confirmed by: normal platelet count and clotting.

  • Finalized by the predictable outcome of management, e.g. protection of skin from mechanical injury, treatment directed at cause, e.g. oral steroids for autoimmune conditions.

  • Acquired coagulopathy

  • due to liver disease, vitamin K deficiency, DIC

  • Suggested by: bruising and history of associated condition.

  • Confirmed by: prolonged prothrombin time.

  • Finalized by the predictable outcome of management, e.g. protection of skin and joints from injury, treatment directed at cause, e.g. vitamin K injections for vitamin K deficiency.

  • Congenital coagulopathy

  • e.g. Von Willebrand’s disease

  • Suggested by: lifelong bruising and bleeding (after tooth extraction, heavy periods).

  • Confirmed by: abnormal platelets function (count normal) and prolonged activated partial thromboplastin time (APTT).

  • Finalized by the predictable outcome of management, e.g. protection of skin and joints from injury, avoidance of NSAIDs. In Von Willebrand’s, vasopressin for mild bleeding; Rich Factor VIII prior to surgery.

Drug effect

  • Suggested by: drug history, e.g. warfarin, steroids.

  • Confirmed by: improvement or drug withdrawal.

  • Finalized by the predictable outcome of management, e.g. stopping suspected drugs.

Generalized lymphadenopathy

Initial investigations: FBC, CRP, ESR, Paul–Bunnell test, Mantoux test, CXR, U/S scan.

Main differential diagnosis and typical outline evidence, etc.

Infectious mononucleosis (glandular fever) due to Epstein–Barr virus

  • Suggested by: very severe throat pain with enlarged tonsils covered with creamy membrane. Petechiae on palate. Profound malaise. Generalized lymphadenopathy, splenomegaly.

  • Confirmed by: Paul–Bunnel test +ve. Viral titres: ↑Epstein–Barr titres.

  • Finalized by the predictable outcome of management, e.g. paracetamol, avoid antibiotics (amoxicillin may cause rash).

Hodgkin’s lymphoma

  • Suggested by: anaemia, splenomegaly, multiple lymph node enlargement.

  • Confirmed by: lymph node histology showing Reed–Sternberg cells.

  • Finalized by the predictable outcome of management, e.g. radiotherapy for the early stage, for the more advanced chemotherapy (MOPP) alone or combined with radiotherapy.

Non-Hodgkin’s lymphoma

  • Suggested by: anaemia, multiple lymph node enlargement.

  • Confirmed by: lymph node histology with no Reed–Sternberg cells.

  • Finalized by the predictable outcome of management, e.g. radiotherapy for localized disease, chlorambucil for systemic disease.

Chronic myeloid leukaemia (CML)

  • Suggested by: splenomegaly, variable hepatomegaly, bruising, anaemia.

  • Confirmed by: presence of Philadelphia chromosome, ↑WCC, e.g. >100x109/L.

  • Finalized by the predictable outcome of management, e.g. allopurinol, imatinib, HLA typing, sibling-matched allogenic transplantation in the chronic phase.

Chronic lymphocytic leukaemia (CLL)

  • Suggested by: anorexia, weight loss, enlarged, rubbery, non-tender lymph nodes. Hepatomegaly, late splenomegaly. Bruising, anaemia.

  • Confirmed by: FBC: marked lymphocytosis. Bone marrow infiltration with leukaemic cells.

  • Finalized by the predictable outcome of management, e.g. monitoring of asymptomatic patients, chemotherapy for the symptomatic, allogenic, or autologous stem cell transplantation.

Acute myeloid leukaemia (AML)

  • Suggested by: generalized lymphadenopathy in adult patient, previous cytotoxics for myelodysplasia, variable hepatomegaly, bruising, anaemia.

  • Confirmed by: blast cells in bone marrow biopsy.

  • Finalized by the predictable outcome of management, e.g. explanation and counselling, prompt treatment of infection, supportive transfusions, allopurinol to prevent hyperuricaemia, plan for need of cranial irradiation and intrathecal chemotherapy, cytotoxics, stem cell transplantation.

Acute lymphoblastic leukaemia (ALL)

  • Suggested by: generalized lymphadenopathy in childhood or Down’s patient, variable hepatomegaly, bruising, anaemia.

  • Confirmed by: presence of immunological marker of common (CD10), T-cell, β-cell, null-cell, associated chromosomal abnormalities.

  • Finalized by the predictable outcome of management, e.g. explanation and counselling, prompt treatment of infection, supportive transfusions, allopurinol to prevent hyperuricaemia, cranial irradiation and intrathecal chemotherapy, cytotoxics, stem cell transplantation.

Sarcoidosis

  • Suggested by: dry cough, breathlessness, malaise, fatigue, weight loss, enlarged lacrimal glands, erythema nodosum.

  • Confirmed by: CXR appearances (e.g. bilateral lymphadenopathy) and tissue biopsy showing non-caseating granuloma.

  • Finalized by the predictable outcome of management, e.g. observation if asymptomatic, then NSAIDs for pains and erythema nodosum; if symptoms not mild or progression, oral steroids and immunosuppressive agents.

Drug effect

  • Suggested by: drug history, e.g. phenytoin, retroviral drug.

  • Confirmed by: improvement when drug withdrawn.

  • Finalized by the predictable outcome of management, e.g. stopping suspected drug(s).

Localized groin lymphadenopathy

Non-specific finding. Initial investigations: FBC.

Main differential diagnoses and typical outline evidence, etc.

Infection somewhere in lower limb or pelvis (usually in past and node remained large)

  • Suggested by: enlarged nodes confined to groins.

  • Confirmed by: local infection in foot or leg, or no symptoms or signs of generalized condition.

  • Finalized by the predictable outcome of management, e.g. antibiotics if bacterial infection not resolving within days.

Pressure sores

Blisters or ulcers on heel or sacrum. Initial investigations: FBC, U&E.

Prolonged contact

  • Suggested by: history ± sensory loss, e.g. spinal cord injury, cerebrovascular accident.

  • Confirmed by: response to frequent turning, dressings, and wound care.

  • Finalized by the predictable outcome of management, e.g. frequent turning, dressings, and wound care. Swab wound and treat specific infections, e.g. MRSA.

Poor nutrition

  • Suggested by: weight falling, ↓Hb, ↓total protein, ↓potassium.

  • Confirmed by: formal dietary assessment, response to improved nutrition.

  • Finalized by the predictable outcome of management, e.g. controlled diet, food diary, weighing 2x weekly, monitor FBC, serum protein, potassium, etc.