HEREDITARY LIPO-MUSCULAR ATROPHY WITH JOINT CONTRACTURE, SKIN ERUPTIONS AND HYPER-GAMMA-GLOBULINEMIA - A NEW SYNDROME

We previously reported two siblings with decreased subcutaneous adipos e tissue, muscular atrophy, joint contractures, recurrent skin eruptio ns, hyper-gamma-globulinemia, and reduced natural killer cell activity . Some of their clinical features are similar to those of partial lipo dystrophy, but they are distinct in that muscular atrophy, joint contr actures and recurrent skin eruptions are not found in patients with pa rtial lipodystrophy. Thirteen other Japanese patients with similar cli nical manifestations have been reported. We propose that such cases sh ould be considered a distinct clinical entity.