Mirza Nida, Upadhyaya Sundeep, Mehta Sagar, Malhotra Smita, Sibal Anupam
Indraprastha Apollo Hospital, Delhi, India.
Department of Rheumatology, Indraprastha Apollo Hospital, New Delhi.
J Pediatr Genet. 2021 Feb 25;12(3):224-226. doi: 10.1055/s-0041-1724048. eCollection 2023 Sep.
The Ehlers-Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the gene have been recognized as pathogenic causing classical-like EDS due to tenascin-X deficiency. Here, we have reported a unique case of compound heterozygous mutation in gene leading to esophageal stricture and scarred skin in a 7-year-old boy who presented to us with impacted foreign body in esophagus. The child was also having tendency to atrophic skin scarring secondary to trivial trauma.
埃勒斯-当洛综合征（EDS）是一组临床和遗传上具有异质性的结缔组织疾病。由于腱生蛋白-X缺乏，该基因的突变已被认为是导致经典型EDS的致病原因。在此，我们报告了一例独特的基因复合杂合突变病例，该突变导致一名7岁男孩出现食管狭窄和皮肤瘢痕，该男孩因食管异物嵌顿前来就诊。该患儿还具有因轻微创伤继发萎缩性皮肤瘢痕的倾向。
