peeling skin syndrome 1

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peeling skin syndrome 12016-11-27T16:26:13+00:00

peeling skin syndrome 1

DERMATOLOGY

A non-inflammatory ichthyosiform genodermatosis (OMIM:270300) characterised by generalised patchy shedding of the corneal layer of the skin, erythema, pruritus and atopy, which begins at birth or shortly thereafter, and may be associated with high IgE levels.

Molecular pathology Defects of CDSN, which encodes corneodesmosin, a protein that localises to the epidermis and other cornified squamous epithelia, and may be required for desquamation of the epidermis, cause peeling syndrome 1. 

Synonyms Keratolysis exfoliativa congenita, skin peeling—familial continuous generalised 

References http://www.uniprot.org/uniprot/Q9H2A9

http://www.omim.org/entry/270300

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