APPEARANCE SAYS IT ALL; A RARE CASE OF HYPOHIDROTIC ECTODERMAL DYSPLASIA

Authors

  • Jasvindar Kumar Khyber Teaching Hospital, Peshawar
  • Atif Ahmed Khyber Teaching Hospital, Peshawar
  • Taimoor Hussain Bolan Medical Complex
  • Daneet Kumar Hayatabad Medical Complex, Peshawar
  • Taimur Aslam Lady Reading Hospital, Peshawar

DOI:

https://doi.org/10.55519/JAMC-04-10890

Abstract

Ectodermal Dysplasia (ED) is a rare genetic condition characterized by the involvement of ectoderm derivatives such as hair, nail, sweat glands, and teeth. It has many variants, but the two most common ones are hypohidrotic/anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. Herein, we present a case of a 20-year-old female with hypohidrotic ectodermal dysplasia who had anodontia, hypohidrosis, and hypotrichosis, and her condition went unrecognized until she was seen for gastroenteritis at a tertiary care center. This case report will help spread education and awareness regarding such a rare and under-recognized condition. Early diagnosis and intervention help improve the quality of life.  

Author Biographies

Jasvindar Kumar, Khyber Teaching Hospital, Peshawar

Department of Medicine Resident Physician

Atif Ahmed, Khyber Teaching Hospital, Peshawar

Department of Medicine Khyber Teaching Hospital, Peshawar. House Officer

Taimoor Hussain, Bolan Medical Complex

Department of Neurology Bolan Medical Complex, Quetta Medical Officer

Daneet Kumar, Hayatabad Medical Complex, Peshawar

Department of Medicine Hayatabad Medical Complex, Peshawar Resident Physician

Taimur Aslam, Lady Reading Hospital, Peshawar

Department of Gastroenterology Lady Reading Hospital, Peshawar Resident gastroenterologist

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Published

2022-09-28

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