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Miscellaneous conditions presenting to the rheumatologist 

Miscellaneous conditions presenting to the rheumatologist

Miscellaneous conditions presenting to the rheumatologist

Donncha O’Gradaigh



Chapter reviewed June 2011—minor alterations made.

Updated on 30 Nov 2011. The previous version of this content can be found here.
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date: 27 April 2017

Musculoskeletal symptoms may occur in a very wide range of diseases, or as a drug side effect. If the clinical picture is unusual, it is important that the physician keeps an open mind and reviews the history, signs, and investigation results carefully, looking for findings incongruent with ‘common diagnoses’. Some of the more distinctive and important miscellaneous conditions that are likely to present to rheumatologists are the following.

Adult Still’s disease—presents with high, spiking pyrexia, arthralgia, or arthritis, and a characteristic nonpruritic, maculopapular, salmon-pink rash. Commonly causes hepatosplenomegaly, generalized lymphadenopathy, and polyserositis (usually pericarditis and pleuritis). Diagnosis is primarily clinical: there are no specific laboratory features. Treatment is with nonsteroidal anti-inflammatory drugs (NSAIDs) and (in severe cases) steroids.

Pyoderma gangrenosum—a reactive neutrophilic dermatosis associated with ulcerative colitis, rheumatoid arthritis, and monoclonal gammopathies or other haematological malignancies. Produces painful ulcerative skin lesions, often associated with arthralgia/polyarthritis. Treatment includes corticosteroids, with ciclosporin or infliximab in resistant cases.

Sweet’s syndrome—presents with tender red or purple raised nodules associated with fever and generalized myalgia and/or arthralgia. Skin biopsy is diagnostic. Treatment is usually symptomatic, with symptoms resolving over 2 to 3 months.

Autoinflammatory disorders—a range of conditions presenting with periodic fevers and inflammation, with familial Mediterranean fever as the prototype, are caused by genetic mutations that affect pyrin function. Dramatic clinical responses can sometimes be obtained with soluble interleukin-1 receptor antagonist or anti-tumour necrosis factor α‎ treatment.

Chronic regional pain syndrome—also known as algodystrophy, Sudeck’s atrophy, and reflex sympathetic dystrophy—presents with pain, allodynia (pain in response to an innocuous stimulus), hyperalgesia (increased pain perception), and hyperpathia (an exaggerated delayed reaction), usually involving a single limb or body region, typically distal to the site of some (often trivial) traumatic event. Diagnosis is largely clinical. Treatment is with intensive physiotherapy; treatments for neuropathic/intractable pain are often given; high-dose bisphosphonates may be helpful.

Charcot’s arthropathy—joint destruction is associated with neurological injury, most commonly due to diabetes. Gross proliferative osteoarthrosis is often seen radiologically. Pain-free joints rarely require treatment; painful joints can respond to intravenous bisphosphonate therapy, absence of weight-bearing, and a total contact cast.

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