Barraquer-Simons syndrome: A rare clinical entity


Simsek-Kiper P. O. , Roach E., ÜTİNE G. E. , Boduroglu K.

American Journal of Medical Genetics, Part A, cilt.164, ss.1756-1760, 2014 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 164 Konu: 7
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/ajmg.a.36491
  • Dergi Adı: American Journal of Medical Genetics, Part A
  • Sayfa Sayıları: ss.1756-1760

Özet

The Barraquer-Simons syndrome or acquired parital lipodystrophy is a rare form of partial lipodystrophy characterized by gradual onset of bilaterally symmetrical subcutaneous fat loss from the face, neck, upper extremities, thorax, and abdomen but sparing the lower extremities. The patients gradually loose their subcutaneous fat in clearly demarcated, generally symmetric areas of the body over several years. Nephropathy, myopathy, deafness, epilepsy, and intellectual disability have also been described. Although the etiology is unknown, heterozygous mutations in the gene encoding one of the nuclear lamina proteins, lamin B2, have been reported in several patients. We here report on a young female patient affected by Barraquer-Simons syndrome, without accompanying renal or central nervous system involvement in whom DNA sequencing did not reveal any mutations in the genes LMNB2, LMNA, PPARG, AGPAT2, BSCL2, CAV1, PTRF, PLIN1, and CIDEC. (c) 2014 Wiley Periodicals, Inc.