Acral Peeling Skin Syndrome: A Clinically and Genetically Heterogeneous Disorder

作者：Pavlovic Sasha; Krunic Aleksandar L^*; Bulj Tanja K; Medenica Maria M; Fong Kenneth; Arita Ken; McGrath John A

来源：Pediatric Dermatology, 2012, 29(3): 258-263.

DOI：10.1111/j.1525-1470.2011.01563.x

Acral peeling skin syndrome (APSS) is a rare, autosomal, recessive genodermatosis characterized by painless spontaneous exfoliation of the skin of the hands and feet at a subcorneal or intracorneal level. It usually presents at birth or appears later in childhood or early adulthood. Some cases result from mutations in the TGM5 gene that encodes transglutaminase 5, which has an important role in cross-linking cornified cell envelope proteins. We report a new APSS pedigree from Jordan that contains at least 10 affected family members, although sequencing of the TGM5 gene failed to disclose any pathogenic mutation(s). On the basis of probable consanguinity, we performed homozygosity mapping and identified areas of homozygosity on chromosomes 1, 6, 10, 13, and 16, although none of the intervals contained genes of clear relevance to cornification. APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity.

• 出版日期2012-6