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, which was associated with severe atopic dermatitis. The condition was successfully treated with tofacitinib, a Janus kinase (JAK) inhibitor. This treatment approach highlighted the potential of tofacitinib in managing severe atopic dermatitis symptoms in patients with genetic mutations affecting ectodermal development. The study provided insights into the genetic basis of HED and the therapeutic role of JAK inhibitors in treating related dermatological conditions.