title: Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
abstract: 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.
authors: Department of Pathology, College of Medicine, University of Illinois, Chicago, Illinois 60612, USA.
authors: Sasha
authors: S
authors: Pavlovic
authors: Aleksandar L
authors: AL
authors: Krunic
authors: Tanja K
authors: TK
authors: Bulj
authors: Maria M
authors: MM
authors: Medenica
authors: Kenneth
authors: K
authors: Fong
authors: Ken
authors: K
authors: Arita
authors: John A
authors: JA
authors: McGrath
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002874:Chromosome Mapping; D003241:Consanguinity; D003873:Dermatitis, Exfoliative / Q000235:genetics* / Q000473:pathology*; D005260:Female; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D007597:Jordan; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology*; D012871:Skin Diseases / Q000151:congenital; D011503:Transglutaminases / Q000235:genetics*; D055815:Young Adult
chemical_list: C418703:transglutaminase 5; D011503:Transglutaminases