Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib

The document discussed a case of Hypohidrotic Ectodermal Dysplasia (HED) with a c.28delG mutation in the Ectodysplasin A gene, accompanied by severe atopic dermatitis. The patient exhibited characteristic facial features such as frontal bossing, a small chin, everted lips, sebaceous hyperplasia, and alopecia of the temporal scalp. The study highlighted the successful treatment of the patient's severe atopic dermatitis with oral tofacitinib, which led to significant improvement in eczematous lesions on the trunk after 2 weeks. This case demonstrated the potential effectiveness of tofacitinib in managing skin symptoms associated with HED.