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Pathology · patient case question

All of the following are true of hypohidrotic ectodermal dysplasia EXCEPT:

Patient case: Analgesia, periodontal risk and ectodermal dysplasia

Scenario: Three items.

  1. Periorbital wrinkling and frontal bossing
  2. Dry skin from absent or reduced sweat glands
  3. It affects males more severely than females
  4. It is Y-linked
Show answer and explanation

Correct answer: D. It is Y-linked

  • A. True. Periorbital wrinkling and hyperpigmentation, frontal bossing, a depressed nasal bridge and everted lips form the recognisable facies.
  • B. True. Absent or hypoplastic sweat glands produce dry skin and heat intolerance, and hyperthermia is a real danger in these children.
  • C. True, and it follows directly from X-linked recessive inheritance: males are fully affected, while female carriers show patchy, milder signs owing to lyonisation.
  • D. Correct — this is the exception. The classic form is X-linked recessive. There is no Y-linked pattern, and a Y-linked condition could never be transmitted to a daughter.

Note: Sparse, fine, brittle hair is the third limb of the classic triad, along with hypodontia and hypohidrosis.

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