Pathology · single question
Father brings son with no teeth, periorbital wrinkles, dry skin. Most likely diagnosis?
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Correct answer: A. Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia (HED): TRIAD = hypodontia/anodontia + hypohidrosis (no sweating) + hypotrichosis (sparse fine hair). Also: dry skin, periorbital wrinkling/hyperpigmentation, saddle nose, frontal bossing. X-linked most common form; males most severely affected.