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Society for Publication of Acta Dermato-Venereologica Ectodermal dysplasia is a group of rare genetic disorders that affect structures of ectodermal origin, which includes nearly 170 syndromes (1). Hypohidrotic ectodermal dysplasia (HED), the most common variation, is characterized by hypohidrosis or anhidrosis, hypotrichosis, hypodontia or anodontia, and distinct facial features, including prominent forehead and lips, epicanthic fold, everted nose, and prognathism. HED has autosomal dominant, autosomal recessive, and X-linked forms (2). The most frequent subtype is X-linked HED (XL-HED; MIM #305100), with a prevalence of 1.6–22 per 100,000 persons, which is caused by mutations in the ectodysplasin A gene (EDA; NM_001399.4) located at Xq12–q13.1 (3). Currently, according to the NCBI ClinVar database, at least 131 novel pathogenic mutations have been identified in patients with HED, among which more than 80% were EDA mutations (4). The EDA gene encodes the transmembrane protein EDA, a member of the tumour necrosis factor α-related signalling pathway (1, 5). The protein is critical for signal transduction from ectoderm to mesenchyme, leading to the development of hair follicles, teeth, skin, nails, and eccrine glands during morphogenesis. Additional findings associated with XL-HED may include recurrent upper respiratory infections, asthma, nasal crusting, keratoconjunctivitis sicca, dry skin and eczema (6). We report here a novel mutation of the EDA gene in a Chinese patient with HED and severe atopic dermatitis that responded well to the treatment of an oral Janus kinase (JAK) inhibitor, tofacitinib.

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