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Pathology · patient case with 2 questions

Case: a child with almost no teeth

Scenario: A father brings his son to the office, concerned that the boy has hardly any teeth. On examination the child has periorbital wrinkling, sparse fine hair and dry skin, and gives a history of heat intolerance.

Question 1

What is the likely diagnosis?

  1. Osteogenesis imperfecta
  2. Hypohidrotic ectodermal dysplasia
  3. Cleidocranial dysplasia
  4. Down syndrome
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Correct answer: B. Hypohidrotic ectodermal dysplasia

  • A. Osteogenesis imperfecta affects collagen: blue sclerae, fragile bones and often dentinogenesis imperfecta, with a normal number of teeth.
  • B. Correct. Absent or conical teeth, sparse hair, dry skin from absent sweat glands, and periorbital wrinkling with frontal bossing form the classic triad-plus of hypohidrotic ectodermal dysplasia.
  • C. Cleidocranial dysplasia gives the opposite dental picture — supernumerary and unerupted teeth — along with absent or hypoplastic clavicles and open fontanelles.
  • D. Down syndrome features hypodontia and delayed eruption, but the skin and sweat glands are normal and the facial features are quite different.

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Question 2

What is the most appropriate next step?

  1. Begin full-mouth extractions of the remaining conical teeth
  2. Postpone all treatment until growth is complete at age 22
  3. Reassure the father that the condition has no dental implications
  4. Refer to a paediatric specialist for multidisciplinary management
Show answer and explanation

Correct answer: D. Refer to a paediatric specialist for multidisciplinary management

  • A. The existing teeth, however malformed, are valuable prosthetic abutments and should be retained and restored, not removed.
  • B. Waiting until growth is complete abandons the child through the years when function and appearance matter most. Prostheses are simply relined and remade as growth proceeds.
  • C. The condition has substantial dental implications, and hypohidrosis also means real risk of hyperthermia — the operatory should be kept cool.
  • D. Correct. These children need coordinated care — paediatrics, genetics, prosthodontics and paediatric dentistry — beginning early. Overdentures or complete dentures are commonly provided from the preschool years for function, speech and self-image.

Note: Implants are generally deferred until skeletal maturity, though the anterior mandible is sometimes an accepted exception in severe cases.

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