[Cowden's disease in an adolescent]

Ann Chir. 2002 Feb;127(2):138-41. doi: 10.1016/s0003-3944(01)00690-3.
[Article in French]

Abstract

Cowden's disease is an autosomal dominantly inherited syndrome characterized by mucocutaneous lesions and multiple hamartomas. We report here a 12 years-old boy case with craniomegally, intestinal polyps, epilepsy and multiadenomatous goiter. All the lesions were beginnings. The predisposing genetic defect has been assignated to chromosomal 10 (PTEN-gene mutation). A long term follow-up is necessary because of the risk of malignancies.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Chromosomes, Human, Pair 10 / genetics*
  • Epilepsy / etiology
  • Goiter / etiology
  • Hamartoma Syndrome, Multiple / complications
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / pathology*
  • Humans
  • Intestinal Polyps / etiology
  • Male
  • Point Mutation
  • Risk Factors
  • Skull / pathology*
  • Tomography, X-Ray Computed