与TNXB基因复合杂合突变相关的食管狭窄和皮肤病理。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-09-01 DOI:10.1055/s-0041-1724048

Nida Mirza, Sundeep Upadhyaya, Sagar Mehta, Smita Malhotra, Anupam Sibal

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引用次数: 0

摘要

埃勒斯-丹洛斯综合征(EDS)是一组结缔组织疾病，临床和遗传异质性。TNXB基因突变已被认为是由腱素- x缺乏引起经典样EDS的致病因素。在这里，我们报告了一个独特的TNXB基因复合杂合突变导致食管狭窄和皮肤疤痕的7岁男孩，他向我们提出了食管异物的影响。孩子也有萎缩性皮肤瘢痕继发于轻微创伤的倾向。

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

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.

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.