Two new cases of Barraquer-Simons syndrome

Am J Med Genet A. 2004 May 1;126A(4):427-9. doi: 10.1002/ajmg.a.20623.


Barraquer-Simons syndrome is a rare form of partial lipodystrophy, mainly characterized by loss of subcutaneous tissue, starting from the face and spreading to the upper part of the body. Occasional functional anomalies such as deafness, epilepsy, and mental retardation can be associated with the condition; nephropathy and myopathy have been observed occasionally. Here we report on two new sporadic cases, who show at the moment only a facial involvement, without any associated anomalies and/or medical complications.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • Lipodystrophy / genetics
  • Lipodystrophy / pathology*
  • Skin / pathology
  • Syndrome