Pathology · single question
A 3-year-old with anodontia of both arches, sharply pointed teeth, light/brittle hair, soft/dry skin, linear wrinkles, reduced sweating — what is the most likely diagnosis?
Show answer and explanation
Correct answer: D. Ectodermal dysplasia
The combination of: anodontia/hypodontia + conical teeth + brittle/light hair + dry skin + reduced sweating (anhidrosis) + premature skin aging (linear wrinkles) = ECTODERMAL DYSPLASIA. All these structures (teeth, hair, skin, sweat glands) are ectoderm-derived. The classic triad of hypohidrotic ectodermal dysplasia is: hypodontia, hypotrichosis, hypohidrosis.
- A. INCORRECT. Regional odontodysplasia ('ghost teeth') affects a localized area of the dentition — not all teeth, and not systemic features.
- B. INCORRECT. Cleidocranial dysplasia features absent/hypoplastic clavicles, persistent primary teeth, delayed eruption of permanent teeth with supernumerary teeth — but NOT absent sweat glands or hair abnormalities.
- C. INCORRECT. Congenital syphilis causes Hutchinson's incisors (screwdriver-shaped), mulberry molars, and bone/skin lesions — not the combination of anhidrosis, hair changes, and complete anodontia described.
- D. CORRECT. Ectodermal dysplasia presents with: hypodontia/anodontia, conical/peg-shaped teeth, thin/light/brittle hair (hypotrichosis), dry skin, anhidrosis (reduced sweating), and premature skin wrinkling. All these features are present in this patient.