Abstract：
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is an exceedingly rare condition associated with mutations in the PVL4 gene. It is characterised by sparse, brittle hair, eyebrows and eyelashes, abnormal dentition and nails, along with bilateral cutaneous syndactyly involving the fingers and toes. We report a 2-year-old girl who presented to us with bilateral complete simple syndactyly of the third and fourth web spaces of the hands, along with bilateral syndactyly of both feet involving the second to fourth toes. Upon examination, sparse hair and eyebrows, along with abnormal dentition, were noted. Thorough clinical examination and genetic analysis were conducted on the affected child and her father, who exhibited similar clinical features. Genetic analysis revealed a homozygous nonsense mutation in the PVL4 gene in both individuals. According to the literature, EDSS1 has been reported in only 10 families worldwide, and there are no reported cases from India. Level of Evidence: Level V (Therapeutic).
摘要：
外胚层发育异常综合征1（EDSS1）是一种与PVL4基因突变相关的极为罕见的疾病。它的特点是稀疏，脆弱的头发，眉毛和睫毛,牙列和指甲异常，伴随着双侧皮肤并累及手指和脚趾。我们报告了一个2岁的女孩，她向我们展示了手的第三和第四空间的双边完全简单的并字关系，以及涉及第二至第四脚趾的双脚的双侧并肢。经检查,稀疏的头发和眉毛，随着牙列异常，被注意到。对受影响儿童及其父亲进行了全面的临床检查和基因分析,表现出相似的临床特征。遗传分析揭示了两个个体的PVL4基因中的纯合无义突变。根据文献,EDSS1在全球仅有10个家庭被报道，印度没有报告病例。证据等级：V级（治疗）。
