Rarer forms of BSCL are due to mutations of the CAV1 (OMIM# 612526) and PTRF (OMIM# 613327) genes (11, 12), respectively, encoding caveolin-1 and cavin-1, belonging to the signaling platforms caveolae at the plasma membrane. This evidence concerns the gene CAV1 and Berardinelli-Seip congenital lipodystrophy.