Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence. (18th February 2011)

• Record Type: Journal Article
• Authors: Lee, Cheng-Hiang; Spence, Roy A J; Upadhyaya, Meena; Morrison, Patrick J
• Is Part Of: BMJ case reports. Volume 2011
• Publication Date: 2011-02-18
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr.10.2010.3395
• Languages: English
• ISSNs: 1757-790X

Abstract

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.