Muttardi K, Nitoiu D, Kelsell D P, O'Toole E A, Batta K
Department of Dermatology, Watford General Hospital, Watford, Hertfordshire, UK.
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18.
Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been linked with APSS and exfoliative ichthyosis. We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA.
肢端皮肤剥脱综合征（APSS）是一种罕见的常染色体隐性疾病，其特征是手脚皮肤无症状性剥脱，常与TGM5基因突变有关。然而，最近发现，编码胱抑素A的CSTA基因发生隐性功能丧失突变与APSS和剥脱性鱼鳞病有关。我们描述了两名患有APSS的姐妹的临床特征，她们与一个包含CSTA基因第1外显子的新型大片纯合缺失有关。
