Pathology · single question
ECTODERMAL DYSPLASIA CASE (continued): What additional clinical finding would you expect in this patient?
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Correct answer: C. Dry eyes (xerophthalmia)
In Hypohidrotic Ectodermal Dysplasia, the lacrimal glands (ectodermal derivatives) may also be affected, leading to reduced tear production and dry eyes (xerophthalmia). Additionally, patients may have periorbital hyperpigmentation, sunken eyes, and sensitivity to heat from absent/reduced sweat glands.
- A. CORRECT. Lacrimal gland hypoplasia causing dry eyes (xerophthalmia) is a recognized feature of ectodermal dysplasia due to involvement of ectodermal glandular structures.
- B. Incorrect. Macroglossia is associated with Down syndrome, Beckwith-Wiedemann syndrome, and hypothyroidism — not ectodermal dysplasia.
- C. Incorrect. Cleft palate is not a defining feature of hypohidrotic ectodermal dysplasia (it can occur in some variants, but is not characteristic).
- D. Incorrect. Polydactyly is a feature of Ellis-van Creveld syndrome and Patau syndrome, not ectodermal dysplasia.