Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene

Abstract

The Ehlers–Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the TNXB 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 TNXB 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.

Keywords

TNXB gene - mutation - esophageal stricture - atrophic skin

Publication History

Received: 17 October 2020

Accepted: 10 January 2021

Article published online:
25 February 2021

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