peeling skin syndrome 2
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