Pathology · single question

A father reports that his son has no teeth, periorbital wrinkles, and dry skin. What is the most likely diagnosis?

  1. Ectodermal dysplasia (the hypohidrotic form classically causes anodontia/hypodontia, dry skin from hypohidrosis, and fine periorbital wrinkling)
  2. Down syndrome
  3. Treacher Collins syndrome
  4. Cleidocranial dysplasia
Show answer and explanation

Correct answer: A. Ectodermal dysplasia (the hypohidrotic form classically causes anodontia/hypodontia, dry skin from hypohidrosis, and fine periorbital wrinkling)

This combination — absent/missing teeth, periorbital fine wrinkling, and dry skin (hypohidrosis) — is classic for hypohidrotic ectodermal dysplasia, an inherited condition (most often X-linked recessive) affecting ectoderm-derived structures including teeth, skin, hair, and sweat glands.

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