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Inherited skin disease 

Inherited skin disease

Inherited skin disease

Irene M. Leigh

, and David P. Kelsell


November 28, 2013: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

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date: 27 April 2017

Most patients referred from primary care to the dermatology clinic will be seeking advice and treatment for a few common skin disorders, including psoriasis, eczema, and acne. The genetic basis of these complex conditions is being unravelled. For example, susceptibility variants have been identified in the gene for filaggrin (FLG), and in SPINK5, which link with atopic eczema.

A number of genes have been identified that predispose to malignancies of the skin, including p16 (CDKN2A) and CDK4 in melanoma, and the Patched (PTCH1) gene involved in Gorlin’s syndrome, in which mutation carriers have an elevated risk of basal cell carcinomas. There are a myriad monogenic epidermal disorders and syndromes including blistering diseases, ichthyoses, palmoplantar keratodermas, and the ectodermal dysplasias. The genetic basis of many of these disorders have been elucidated.

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