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Recurrent fever and lack of tooth buds. a case of ectodermal dysplasia in a 9 months old boy

E L Nijs1, T A Huisman

  • 1Department of Radiology, Children's Hospital Boston and Harvard Medical School, MA 02115, USA.

JBR-BTR : Organe De La Societe Royale Belge De Radiologie (SRBR) = Orgaan Van De Koninklijke Belgische Vereniging Voor Radiologie (KBVR)
|January 31, 2002
PubMed

Insights

A 9-month-old boy with recurrent fevers was diagnosed with X-linked anhidrotic ectodermal dysplasia. His hypodontia, visible on chest X-rays, aided in diagnosing this rare genetic disorder.

Area of Science:

  • Pediatric genetics
  • Dermatology
  • Radiology

Background:

  • Anhidrotic (hypohidrotic) ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal structures.
  • X-linked inheritance is a common pattern for HED, primarily affecting males.
  • Recurrent fevers and suspected pneumonia are common presentations in infants, necessitating diagnostic imaging.

Observation:

  • A 9-month-old boy presented with recurrent episodes of high fever, leading to multiple chest X-rays to exclude pneumonia.
  • Radiographic examination revealed the absence of tooth buds (hypodontia) at the margins of the chest X-rays.
  • This finding, alongside clinical symptoms, raised suspicion for a potential underlying genetic condition.

Findings:

  • The presence of hypodontia on chest X-rays in an infant with recurrent fevers was a key diagnostic clue.
  • This radiographic finding strongly suggested X-linked anhidrotic (hypohidrotic) ectodermal dysplasia.
  • The diagnosis was confirmed based on the combination of clinical presentation and radiographic evidence.

Implications:

  • Highlights the utility of incidental radiographic findings in diagnosing rare genetic syndromes.
  • Emphasizes the importance of considering ectodermal dysplasia in infants with unexplained fevers and dental anomalies.
  • Suggests that chest X-rays may offer early diagnostic clues for HED, potentially avoiding more invasive investigations.

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