Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence

BMJ Case Rep. 2011 Feb 17:2011:bcr1020103395. doi: 10.1136/bcr.10.2010.3395.

Abstract

Familial multiple lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance. The authors describe a family with multiple lipomatosis showing clear autosomal dominant inheritance, and no mutations within the NF1, SPRED1 or Cowden disease (PTEN) genes. Familial autosomal dominant lipomatosis is a rare but distinct entity.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Female
  • Genes, Dominant
  • Humans
  • Lipoma / genetics*
  • Pedigree
  • Phenotype