Department of Dermatology, Sozialmedizinisches Zentrum Ost (Donauspital), Vienna, Austria.
Department of Dermatology, Medical University of Innsbruck, Innsbruck, Austria.
Int J Dermatol. 2018 Feb;57(2):223-226. doi: 10.1111/ijd.13862. Epub 2017 Dec 19.
Ectodermal dysplasias (EDs) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. One recently described rare entity is the autosomal recessive inherited ectodermal dysplasia-syndactyly syndrome 1 (EDSS1). Homozygous and compound heterozygous missense and nonsense mutations in the poliovirus receptor related-4 (PVRL4) gene, encoding cell adhesion molecule nectin-4, have been identified as causal for EDSS1. We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion of the 2nd to 4th toes, and generalized dry skin. There was no palmoplantar hyperkeratosis and sweating appeared normal to slightly enhanced, especially on the head. Using exome sequencing, we identified the novel homozygous nonsense mutation c.229C>T (p.Gln77Ter) in PVRL4.
外胚层发育不全症（EDs）是一组遗传性疾病，其特征是两种或多种外胚层结构发生改变。最近描述了一种罕见的外胚层发育不全-并指综合征 1 （EDSS1），属于常染色体隐性遗传性疾病。在多瘤病毒受体相关蛋白 4（PVRL4）基因中发现了纯合子和复合杂合错义及无义突变，该基因编码细胞黏附分子神经节苷脂 4（nectin-4），被认为是 EDSS1 的致病原因。我们在此报告一个 2 岁女孩的近亲家族患有 EDSS1，包括头部进行性脱发、毛发镜下毛干扭曲呈发旋状、牙齿稀疏、钉状和圆锥形、第 2 至 4 脚趾近端并指、全身性干燥皮肤。无掌跖过度角化，出汗正常或略有增加，尤其是头部。使用外显子组测序，我们在 PVRL4 中发现了 novel 纯合子无义突变 c.229C>T（p.Gln77Ter）。
