Pathology · patient case question
What is the likely diagnosis?
Patient case: 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.
Show answer and explanation
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.