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Pathology · single question

What is the MOST likely diagnosis?

  1. Ectodermal dysplasia
  2. Cleidocranial dysplasia
  3. Down syndrome
  4. Papillon-Lefèvre syndrome
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Correct answer: A. Ectodermal dysplasia

Ectodermal dysplasia is characterized by: hypodontia/anodontia, sparse/absent hair, anhidrosis (inability to sweat), periorbital wrinkles, dry skin, heat intolerance. This triad of hair-teeth-nails/sweat glands affected = ectodermal dysplasia. Cleidocranial dysplasia has supernumerary teeth. Down syndrome has macroglossia. Papillon-Lefèvre has periodontitis.

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