Pathology · single question

A 3-year-old patient presents with complete anodontia, dry and wrinkled skin. The most likely diagnosis is:

  1. Pierre Robin syndrome
  2. Regional odontodysplasia
  3. Cherubism
  4. Ectodermal dysplasia
Show answer and explanation

Correct answer: D. Ectodermal dysplasia

  • A. Pierre Robin syndrome features micrognathia, cleft palate, and tongue displacement — not skin changes or anodontia.
  • B. Regional odontodysplasia causes localized missing teeth with 'ghost' appearance, not complete anodontia with skin changes.
  • C. Cherubism is a familial condition causing bilateral jaw swelling from fibrous tissue — it does not cause complete anodontia or skin changes.
  • D. Correct. Ectodermal dysplasia is characterized by hypohidrosis (inability to sweat), hypotrichosis (sparse hair), hypodontia or anodontia, and characteristic skin findings. The combination of complete anodontia with dry, wrinkled skin is classic.

Practice Pathology questions Pathology study notes

More Pathology practice questions