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Pathology · single question

A father reports that his son has no teeth, periorbital wrinkles, and dry skin, with sparse hair. What is the most likely diagnosis, and what additional finding might also be present?

  1. Ectodermal dysplasia, which can also cause dry eyes
  2. Down syndrome, which causes excessive tearing
  3. Treacher Collins syndrome, which causes excessive salivation
  4. Cleidocranial dysplasia, which causes hyperhidrosis
Show answer and explanation

Correct answer: A. Ectodermal dysplasia, which can also cause dry eyes

Hypohidrotic ectodermal dysplasia classically presents with missing/malformed teeth, dry skin (hypohidrosis from reduced sweat gland function), sparse hair, and fine periorbital wrinkling — and can also affect the lacrimal glands, producing dry eyes, consistent with the condition's broader pattern of reduced exocrine gland function across multiple ectoderm-derived structures.

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