Pathology · single question

Father brings son with no teeth, periorbital wrinkles, dry skin. Most likely diagnosis?

  1. Hypohidrotic ectodermal dysplasia
  2. Cleidocranial dysostosis
  3. Cherubism
  4. Down syndrome
Show answer and explanation

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.

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