peeling skin syndrome, acral type
peeling skin syndrome, acral type
An extremely rare autosomal recessive genodermatosis (OMIM:609796) characterised by shedding of the outer epidermis, especially of the dorsa of the hands and feet, which is exacerbated by increase ambient temperature and/or humidity.Molecular pathology
Caused by defects of TGM5, which encodes a transglutaminase that catalyses cross-linking in proteins between glutamine and lysine residues.