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[Cowden's disease in an adolescent]
J N Mcheik1, P Vabres, D Bonneau
1Service de chirurgie pédiatrique, centre hospitalier universitaire de Poitiers, 350, avenue Jacques-Caeur, BP 577, 86021 Poitiers, France. jiadmcheik@yahoo.fr
Annales De Chirurgie
|March 12, 2002
Summary
Cowden's disease, a genetic disorder, presents with skin lesions and tumors. Early signs in a 12-year-old boy included enlarged head, intestinal polyps, epilepsy, and goiter, linked to a PTEN gene mutation.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Cowden's disease is an autosomal dominant disorder.
- It is characterized by mucocutaneous lesions and multiple hamartomas.
- PTEN gene mutations are implicated in its pathogenesis.
Observation:
- A 12-year-old boy presented with early signs of Cowden's disease.
- Clinical manifestations included craniomegaly, intestinal polyps, epilepsy, and a multiadenomatous goiter.
- These lesions were noted to be in their initial stages.
Findings:
- The genetic defect was assigned to chromosome 10, specifically a PTEN-gene mutation.
- This mutation is a known predisposing factor for Cowden's disease.
- The patient exhibited multiple early-stage hamartomatous lesions.
Implications:
- Early diagnosis and monitoring are crucial for managing Cowden's disease.
- Long-term follow-up is essential due to the increased risk of malignancies.
- Understanding the PTEN gene's role aids in genetic counseling and potential therapeutic strategies.