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J Pediatr Genet 2023; 12(03): 224-226
DOI: 10.1055/s-0041-1724048
Case-Based Review

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

Nida Mirza 
1   Indraprastha Apollo Hospital, Delhi, India
,
Sundeep Upadhyaya
2   Department of Rheumatology, Indraprastha Apollo Hospital, New Delhi
,
Sagar Mehta
3   Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi
,
Smita Malhotra
3   Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi
,
Anupam Sibal
3   Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi
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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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  • References

  • 1 Burch GH, Gong Y, Liu W. et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 1997; 17 (01) 104-108
    CrossrefPubMedGoogle Scholar
  • 2 Pénisson-Besnier I, Allamand V, Beurrier P. et al. Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord 2013; 23 (08) 664-669
    CrossrefPubMedGoogle Scholar
  • 3 Schalkwijk J, Zweers MC, Steijlen PM. et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 2001; 345 (16) 1167-1175
    CrossrefPubMedGoogle Scholar
  • 4 Mao JR, Taylor G, Dean WB. et al. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat Genet 2002; 30 (04) 421-425
    CrossrefPubMedGoogle Scholar
  • 5 Lindor NM, Bristow J. Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Am J Med Genet A 2005; 135 (01) 75-80
    CrossrefPubMedGoogle Scholar
  • 6 Sakiyama T, Kubo A, Sasaki T. et al. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency. J Dermatol 2015; 42 (05) 511-514
    CrossrefPubMedGoogle Scholar
  • 7 Demirdas S, Dulfer E, Robert L. et al. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet 2017; 91 (03) 411-425
    CrossrefPubMedGoogle Scholar
  • 8 O'Connell M, Burrows NP, van Vlijmen-Willems MJJ, Clark SM, Schalkwijk J. Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature. Br J Dermatol 2010; 163 (06) 1340-1345
    CrossrefPubMedGoogle Scholar
  • 9 Hendriks AG, Voermans NC, Schalkwijk J, Hamel BC, van Rossum MM. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases. Clin Dysmorphol 2012; 21 (01) 15-18
    CrossrefPubMedGoogle Scholar
  • 10 Besselink-Lobanova A, Maandag NJ, Voermans NC, van der Heijden HF, van der Hoeven JG, Heunks LM. Trachea rupture in tenascin-X-deficient type Ehlers-Danlos syndrome. Anesthesiology 2010; 113 (03) 746-749
    CrossrefPubMedGoogle Scholar
  • 11 Rymen D, Ritelli M, Zoppi N. et al. Clinical and molecular characterization of classical-like Ehlers-Danlos syndrome due to a novel TNXB variant. Genes (Basel) 2019; 10 (11) 843
    CrossrefPubMedGoogle Scholar