Article
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
The British journal of dermatology - 1 Nov 2014
Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt D T, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath J A, Mellerio J E, Morton J, Woźniak K, Kowalewski C, Has C, Moss C
Abstract excerpt
BACKGROUND: Acral peeling skin syndrome (APSS) is a rare skin fragility disorder usually caused by mutations in the transglutaminase 5 gene (TGM5). METHODS: We investigated the mutation spectrum of APSS in the U.K., Germany and Poland. RESULTS: We identified 59 children with APSS from 52 families. The phenotype was readily recognizable, with some variation in severity both within and between families. Most cases...
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