Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab

Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab

Hypohidrotic ectodermal dysplasia (HED) is a rare disease. Patients with HED present with sparse hair on the head, dysplastic teeth and anhidrosis since childhood, along with atopic dermatitis-like skin manifestations. We report a 20-year-old male HED patient with atopic dermatitis-like skin who was...

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Bibliographic Details
Main Authors: Eri Uchiyama, Kiminobu Takeda, Hiroto Ono, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Journal of Cutaneous Immunology and Allergy
Subjects:
hypohidrotic ectodermal dysplasia (HED)
EDA gene
atopic dermatitis
dupilumab
genetic analysis
Online Access:https://www.frontierspartnerships.org/articles/10.3389/jcia.2025.13813/full
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