Barraquer-Simons syndrome: a rare clinical entity.
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.
Pediatric Genetic Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
Pelin Ozlem
PO
Simsek-Kiper
Emir
E
Roach
Gulen Eda
GE
Utine
Koray
K
Boduroglu
D000015:Abnormalities, Multiple / Q000175:diagnosis; D004909:Erythrocyte Indices; D005260:Female; D006801:Humans; D007677:Kidney Function Tests; D008055:Lipids / Q000097:blood; D008060:Lipodystrophy / Q000097:blood / Q000175:diagnosis*; D010641:Phenotype; D013960:Thyroid Function Tests; D055815:Young Adult
D008055:Lipids
Barraquer-Simons syndrome; LMNB2; loss of subcutaneous fat tissue; partial lipodystrophy