Pediatric Dentistry · patient case question
What is the most likely diagnosis?
Patient case: A father who says his son has no teeth
demo: 6-year-old male, accompanied by his father
chief: The father is worried that his son still has almost no teeth.
history: Born at term. The father reports the boy overheats badly in summer and has to be cooled with wet towels; he rarely seems to sweat. He has never been seen by a specialist.
meds: None.
findings: Sparse fine scalp hair, prominent periorbital wrinkling with darkening around the eyes, frontal bossing, a depressed nasal bridge and everted lips. The skin is dry and scaly. Only two conical teeth are present in each arch.
Show answer and explanation
Correct answer: D. Hypohidrotic ectodermal dysplasia
- A. Cleidocranial dysplasia gives the opposite dental picture: retained primary teeth and multiple supernumeraries, along with hypoplastic or absent clavicles and open fontanelles.
- B. Ellis-van Creveld syndrome, which is chondroectodermal dysplasia, features polydactyly, short-limbed dwarfism, natal teeth and a fused upper labial frenum.
- C. Papillon-Lefevre syndrome causes palmoplantar hyperkeratosis with aggressive periodontitis and premature loss of teeth that did erupt, not failure of teeth to form.
- D. Correct. The triad of hypodontia or anodontia, hypotrichosis and hypohidrosis, presenting with dry skin, periorbital wrinkling, frontal bossing and a saddle nose, defines hypohidrotic ectodermal dysplasia, also called Christ-Siemens-Touraine syndrome. All the affected structures are ectodermal derivatives.
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