Pathology · single question
A 3-year-old girl presents with anodontia, dry/soft skin, sparse hair, and reduced tearing. Which syndrome best explains these findings?
Show answer and explanation
Correct answer: A. Hypohidrotic ectodermal dysplasia
- A. Correct. Hypohidrotic ectodermal dysplasia affects ectoderm-derived structures: missing/conical teeth (an/oligodontia), thin dry skin, sparse hair, and hypofunction of sweat/sebaceous and lacrimal glands (dry eyes).
- B. Ehlers-Danlos is a connective-tissue disorder (hypermobility, fragile skin), not anodontia.
- C. Sjögren is an autoimmune sicca syndrome of adults, not congenital anodontia in a toddler.
- D. Down syndrome shows hypodontia and delayed eruption but not the dry-skin/dry-eye ectodermal triad.
Note: The source keyed the answer as 'dry eye,' which is a symptom, not a syndrome. The unifying diagnosis is ectodermal dysplasia.