Pathology · single question
A patient has fine wrinkled skin, sparse/brittle hair, and missing teeth. What is the most likely diagnosis?
Show answer and explanation
Correct answer: A. Ectodermal dysplasia
- A. Correct. Ectodermal dysplasia affects ectoderm-derived tissues: hypodontia/conical teeth, sparse fine hair (hypotrichosis), dry wrinkled skin, and reduced sweating.
- B. Down syndrome features include microdontia, periodontal disease, and characteristic facies — not the hair/skin triad.
- C. Cleidocranial dysplasia gives multiple supernumerary/unerupted teeth and clavicular defects.
- D. Osteogenesis imperfecta affects bone and (with DI) teeth, not hair/skin in this pattern.