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