Pathology · patient case question
What is the diagnosis?
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: A. Ectodermal dysplasia
- A. Correct. Hypohidrotic ectodermal dysplasia is defined by defects in ectodermally derived structures: anodontia/hypodontia with conical teeth, HYPOHIDROSIS (reduced sweating causing HEAT INTOLERANCE), fine sparse hair, and dry skin with periorbital/perioral wrinkling and hyperpigmentation. The absence of a family history does not exclude it — the X-linked form can arise from a new mutation, and carrier mothers may be only mildly affected.
- B. Cleidocranial dysplasia features SUPERNUMERARY teeth, retained primary teeth, delayed eruption, absent or hypoplastic clavicles and open fontanelles — not anodontia with heat intolerance.
- C. Gorlin-Goltz (nevoid basal cell carcinoma syndrome) features multiple odontogenic keratocysts, basal cell carcinomas, bifid ribs and calcified falx cerebri.
- D. Papillon-Lefèvre features palmoplantar hyperkeratosis with severe early-onset periodontitis and premature loss of both dentitions — the teeth erupt normally first.