Lipodystrophy characterized by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. Patients are also more likely to have AUTOIMMUNE DISEASES. Most cases are sporadic, however, there may be genetic susceptibility associated with mutations in the LMNB2 gene. OMIM: 608709
Also Known As:
Lipodystrophy, Partial, Acquired; Barraquer-Simons Syndrome; Lipodystrophy, Cephalothoracic Type; Lipodystrophy, Partial, Progressive