Anhidrotic Ectodermal Dysplasia: A Rare Case Report of Christ–Siemens–Touraine Syndrome in an Adult Male

Authors

Lina Benchekroun, Hanane Darghal, Mariame Meziane, Nadia Ismaili, Laila Benzekri, Karima Senouci

Journal Information

Journal: Medpeer Publisher

ISSN: 3066-2737

Volume: 2

Issue: 7

Date of Publication: 2025/07/05

DOI: 10.70780/medpeer.000QGO1

Abstract

Anhidrotic ectodermal dysplasia (AED), also known as Christ–Siemens–Touraine syndrome, is a rare inherited disorder characterized by the triad of hypotrichosis, hypodontia, and anhidrosis. It results from abnormal development of ectodermal structures during embryogenesis. We report a case of a 28-year-old male with typical features of AED, including conical teeth, partial anodontia, sparse hair, dry skin, and absence of sweating. The diagnosis was clinical, supported by dermatologic and dental findings, and there were no similar cases in the family. This case highlights the importance of early recognition and multidisciplinary management of AED, a syndrome with significant aesthetic and functional consequences.

Keywords

Anhidrotic ectodermal dysplasia, Christ–Siemens–Touraine syndrome, Rare genetic disorder