Callea, MicheleYavuz, IzzetClarich, GabriellaCammarata-Scalisi, Francisco2024-04-242024-04-2420150325-00751668-3501https://doi.org/10.5546/aap.2015.e341https://hdl.handle.net/11468/20222Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye disorders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C>T; p.T378M in EDA gene.esinfo:eu-repo/semantics/openAccessEctodermal DysplasiaX-Linked Hypohidrotic Ectodermal DysplasiaEdaC.1133c > TP.T378mArticle1136E341E344WOS:0003683637000082659381310.5546/aap.2015.e341Q4