Hypohidrotic Ectodermal Dysplasia/ Christ-Siemens-Touraine Syndrome: A case report

Authors

  • Zahra Arooba Department of Dermatology Unit II, King Edward Medical University/ Mayo Hospital Lahore.
  • Maida Ulfat Department of Dermatology Unit II, King Edward Medical University/ Mayo Hospital Lahore.
  • Shahbaz Aman Department of Dermatology Unit II, King Edward Medical University/ Mayo Hospital Lahore.

Keywords:

Hypohidrosis, Hypodontia, Hypotrichosis, Multidisciplinary approach

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous inherited disorder resulting from faulty development of ectodermal structures. It is clinically characterized by the classical triad of hypohidrosis, hypodontia and hypotrichosis. We report a case of 13 years old boy who presented with chief complaints of hypohidrosis and heat intolerance that were particularly troublesome in summer months. Detailed evaluations revealed numerous cutaneous and extracutaneous manifestations of the syndrome. After a clinical diagnosis, patient was managed with a multidisciplinary approach which resulted in remarkable improvement in his quality of life.

References

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Published

2024-05-06

How to Cite

1.
Arooba Z, Ulfat M, Aman S. Hypohidrotic Ectodermal Dysplasia/ Christ-Siemens-Touraine Syndrome: A case report. J Pak Assoc Dermatol [Internet]. 2024May6 [cited 2024May19];34(1):306-10. Available from: https://jpad.com.pk/index.php/jpad/article/view/2752

Issue

Section

Case Reports

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