Pathology · single question

A patient with ectodermal dysplasia (ED) presents with dry eyes, sparse hair, anodontia, and what appears to be a small head circumference. All of the following are features of ED EXCEPT one. Which is the EXCEPTION?

  1. Anodontia or oligodontia
  2. Sparse or absent hair
  3. Bifid ribs
  4. Dry eyes
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Correct answer: C. Bifid ribs

  • A. Anodontia (complete absence) or oligodontia (partial absence) of teeth — the most clinically significant oral manifestation of hypohidrotic ED, affecting both primary and permanent dentitions.
  • B. Sparse or absent hair (hypotrichosis or atrichia) — hair follicles are ectodermal; their absence is a hallmark of ED.
  • C. CORRECT. Bifid ribs are NOT a feature of ectodermal dysplasia. Bifid ribs are associated with Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) or Ellis-van Creveld syndrome, not ED. ED features involve structures derived from ectoderm: teeth, hair, nails, and sweat/sebaceous glands — ribs are mesodermal structures.
  • D. Dry eyes (lacrimal gland hypoplasia/aplasia) — tear glands are ectodermal derivatives; their absence in ED causes dry eyes and risk of corneal damage.

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