keratoderma—palmoplantar—striate 2

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keratoderma—palmoplantar—striate 22016-11-26T13:43:21+00:00

keratoderma—palmoplantar—striate 2

DERMATOLOGY

Definition An autosomal dominant skin disorder (OMIM:612908) characterised by thickening of the skin on the palms (linear pattern) and soles (island-like pattern) and flexor aspect of the fingers, rarely accompanied by defects of nails, teeth and hair.

Molecular pathology Defects of DSP, which encodes desmoplakin, an obligate component of functional desmosomes, cause keratoderma—palmoplantar—striate 2. 

Synonyms Keratoderma—palmoplantar—striate form II, keratosis palmoplantaris striata II, striate palmoplantar keratoderma II

Reference http://www.uniprot.org/uniprot/Q03001

 http://www.omim.org/entry/612908

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