Department of Dermatology, The Faculty of Medicine, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Pediatr Dermatol. 2021 Nov;38(6):1546-1548. doi: 10.1111/pde.14843. Epub 2021 Oct 28.
Acral peeling skin syndrome is a rare genodermatosis characterized by asymptomatic peeling of the acral skin. It is usually caused by biallelic mutations in the gene TGM5. However, biallelic mutations in the CSTA gene have also been described to cause APSS with exfoliative ichthyosis, so far in only five pedigrees. Here, we report two new pedigrees, each with one patient having APSS, due to a novel CSTA mutation.
肢端剥脱性皮炎综合征是一种罕见的遗传性皮肤病，其特征为肢端无症状性皮肤剥脱。它通常是由 TGM5 基因的双等位基因突变引起的。然而，CSTA 基因的双等位基因突变也已被描述为导致具有鳞片状鱼鳞病的 APSS，迄今为止仅在五个家系中描述过。在这里，我们报告了两个新的家系，每个家系都有一名患者患有 APSS，这是由于一种新的 CSTA 突变所致。
