peeling skin syndrome 2

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peeling skin syndrome 22016-11-27T16:27:52+00:00

peeling skin syndrome 2

GENETICS, DERMATOLOGY

An über rare autosomal recessive genodermatosis (OMIM:609796) which is characterised by shedding of the upper epidermis, especially of the dorsa of the hands and feet. The exfoliation is exacerbated by increased ambient temperature and/or humidity. It is accompanied by painless erythema and spontaneous non-scarring healing.

Molecular pathology Defects of TGM5, which encodes a transglutaminase that catalyses cross-linking in proteins between glutamine and lysine residues, cause peeling skin syndrome 2. 

Synonyms Acral peeling skin syndrome, APSS, peeling skin syndrome—acral type peeling syndrome—type A 

References http://www.uniprot.org/uniprot/O43548

http://www.omim.org/entry/609796

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