Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence.
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.
Belfast HSC Trust, Belfast, UK.
Cheng-Hiang
CH
Lee
Roy A J
RA
Spence
Meena
M
Upadhyaya
Patrick J
PJ
Morrison
D000293:Adolescent; D017668:Age of Onset; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008067:Lipoma / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype