Pathology · patient case question
What ELSE do you see in ectodermal dysplasia?
Patient case: Child with complete anodontia and dry skin
Scenario: A patient presents with COMPLETE ANODONTIA, DRY SKIN, PERIORAL WRINKLES, and INTOLERANCE TO HIGH TEMPERATURES. There is NO family history of the condition in either parent or any other family member.
Show answer and explanation
Correct answer: C. Dry eyes
- A. Bifid ribs belong to Gorlin-Goltz syndrome.
- B. Microcephaly is not a feature; the frontal bossing and depressed nasal bridge give a characteristic facies but head size is normal.
- C. Correct. Because lacrimal and other exocrine glands are also ectodermal derivatives, they are hypoplastic — producing DRY EYES (and dry mouth, dry nasal mucosa) alongside the reduced sweating.
- D. Palmoplantar keratosis belongs to Papillon-Lefèvre syndrome.