AUTHOR=Uchiyama Eri , Takeda Kiminobu , Ono Hiroto , Shimizu Akira , Togi Sumihito , Ura Hiroki , Niida Yo 

TITLE=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

JOURNAL=Journal of Cutaneous Immunology and Allergy

VOLUME=Volume 8 - 2025

YEAR=2025

URL=https://www.frontierspartnerships.org/journals/journal-of-cutaneous-immunology-and-allergy/articles/10.3389/jcia.2025.13813

DOI=10.3389/jcia.2025.13813

ISSN=2574-4593

ABSTRACT=Hypohidrotic ectodermal dysplasia (HED) is a rare disease. They had sparse hair on the head, dysplastic teeth and anhidrosis since childhood and atopic dermatitis like skin. We report a 20year-old male HED patient with atopic dermatitis like skin who was successfully treated with dupilumab. Genetic analysis identified a splicing mutation in the EDA gene, NG_009809.2(NM_001399.5):c.793+3A>C r.742_793del p.Pro248Ilefs Ter15, which has never been reported. As an adult, he presented to our department because of worsening generalized itching. Based on the distribution of the skin rash, the patient was diagnosed with atopic dermatitis and started on dupilumab. The skin rash became milder in the third month of treatment. The potential of dupilumab in treating genodermatoses associated with Th2 immunity is known.Although the skin rash is related to atopic dermatitis-like skin manifestations of HED or independent atopic dermatitis is unclear, dupilumab can be a potential candidate for the treatment of HED with atopic dermatitis skin.