Journal of Cutaneous Immunology and Allergy (Jan 2025)
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
Abstract
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 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 before. The subject 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 less severe 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 may be a candidate for the treatment of HED with atopic dermatitis skin.
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