Pathology · single question

A 3-year-old child presents with anodontia (no teeth), dry skin, and linear facial wrinkles. The MOST likely diagnosis is:

  1. Ectodermal dysplasia
  2. Regional odontodysplasia
  3. Congenital syphilis
  4. Cleidocranial dysplasia
Show answer and explanation

Correct answer: A. Ectodermal dysplasia

  • A. Correct. Ectodermal dysplasia is a group of inherited conditions affecting ectodermal-derived structures (teeth, hair, sweat glands, nails). The classic triad: hypohidrosis (reduced sweating), hypotrichosis (sparse hair), and hypodontia/anodontia. Additional features include dry/wrinkled skin and conical-shaped teeth.
  • B. Regional odontodysplasia affects a specific region/quadrant with ghost teeth (poorly mineralized teeth) but does not cause anodontia or the described skin changes.
  • C. Congenital syphilis can cause Hutchinson incisors and mulberry molars, but the skin findings described (dry skin with linear wrinkles) are characteristic of ectodermal dysplasia.
  • D. Cleidocranial dysplasia is characterized by SUPERNUMERARY teeth (too many), absent clavicles, and large fontanelles — the opposite dental finding from anodontia.

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