PLACK 综合征由 CAST 中的新型纯合变异引起。
PLACK syndrome resulting from a novel homozygous variant in CAST.
机构信息
Department of Paediatric Dermatology, Children's Health Ireland at Crumlin, Dublin, Ireland.
National Children's Research Centre, Dublin, Ireland.
出版信息
Pediatr Dermatol. 2021 Jan;38(1):210-212. doi: 10.1111/pde.14383. Epub 2020 Oct 3.
PLACK syndrome (OMIM 616295) is a form of generalized peeling skin syndrome (GPSS; OMIM 270300). It is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. We present a 5-year-old girl diagnosed with PLACK syndrome with typical clinical features and homozygosity for a novel variant.
PLACK 综合征（OMIM 616295）是一种广义剥脱性皮肤综合征（GPSS；OMIM 270300）。它是一种常染色体隐性遗传皮肤病，由 CAST 中的致病性突变引起，CAST 编码钙蛋白酶内源性特异性抑制剂钙蛋白酶抑制剂，钙蛋白酶是一种依赖钙的半胱氨酸蛋白酶。我们报告了一例 5 岁女孩，患有 PLACK 综合征，具有典型的临床特征和新型变异的纯合性。
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