Pathology · single question
A child has congenitally missing teeth, sparse hair, abnormal nails, and absent sweat glands. Most consistent syndrome?
Show answer and explanation
Correct answer: C. Ectodermal dysplasia
Ectodermal dysplasia affects ectodermal derivatives: teeth (oligodontia/anodontia), hair (hypotrichosis), nails (dysplastic), and sweat glands (anhidrosis).
- A. ❌ Gorlin syndrome features BCCs, calcified falx cerebri, and OKCs.
- B. ❌ Treacher Collins has craniofacial features (ear malformation, mandibular hypoplasia), not the ectodermal triad.
- C. ✅ CORRECT – Ectodermal dysplasia: affects teeth, hair, nails, and sweat glands.
- D. ❌ Cleidocranial dysplasia features absent clavicles and multiple supernumerary teeth.