Molecular genetic studies have pointed to a relationship between congenital lipodystrophy syndromes and some cardiac disorders. For instance, mutations in LMNA cause either lipodystrophy or cardiomyopathy, indicating that different mutations in the same gene can produce these clinical syndromes. The present authors describe a 10-year-old female with Berardinelli-Seip congenital complete lipodys...

Lipodystrophy is a common complication in HIV-infected patients taking highly active antiretroviral therapy. Its early diagnosis is crucial for timely modification of antiretroviral therapy. We hypothesize that mitochondrial DNA in plasma may be a potential marker of LD in HIV-infected individuals. In this study, we compared plasma mitochondrial DNA levels in HIV-infected individuals and non-HI...

Leptin, an adipocyte-secreted hormone, regulates energy homeostasis as well as reproductive, neuroendocrine, immune and metabolic functions. Subjects with decreased amounts of fat in their adipose tissue, i.e., lipoatrophy, have low leptin levels. In the context of open-label, uncontrolled studies leptin administration, in physiological replacement doses, has been shown to have metabolically sa...

Acquired partial lipodystrophy (Barraquer-Simons syndrome) is a rare condition with onset in childhood, and it is characterized by progressive loss of subcutaneous fat in a cephalocaudal fashion. Although it is known that acquired partial lipodystrophy usually follows acute febrile illness, it is very rarely reported to occur in association with varicella. In this case report, we present a seve...

INTRODUCTION Patients with lipodystrophy experience selective or generalized atrophy of adipose tissue. The disruption of lipid metabolism results in an increased risk for development of metabolic syndrome and coronary artery disease. Currently, the mutations responsible for approximately half of lipodystrophy patients are known, but new techniques and examination of different types of genetic ...

Partial lipodystrophy is known to be associated with mesangiocapillary glomerulonephritis. A case is described of a possible association of partial lipodystrophy with anti-GBM nephritis (Goodpasture's syndrome).

conclusions metabolic abnormalities in bscl may prove fatal necessitating optimal therapeutic and preventive measures. patients are advised low fat diet with enhanced physical activities. other treatments include metformin, n-3 polyunsaturated fatty acids and leptin replacement for correction of metabolic complications. we report this case of bscl in view of its rarity. case presentation an 18 ...

Lipodystrophy is a group of metabolic disorders, possibly caused by autoimmune disease. In this report, we describe a case of adult-onset acquired partial lipodystrophy accompanied by rheumatoid arthritis without a family history. Interestingly, immunohistochemical staining revealed dense infiltration of IL-27-producing cells as well as MMP-7-and MMP-28-expressing cells, both of which have been...

Two patients suffering from partial lipodystrophy, pancreatitis, and recurrent eosinophilia are described. In one patient the duodenum and the terminal ileum were narrowed, the appearances suggesting eosinophilic gastroenteritis: bilateral hydronephrosis was also present without ureteric obstruction. An association between lipodystrophy and renal disease is recognized; it is possible that there...

INTRODUCTION Benign mesenteric lipodystrophy is rare and often presents in a non-specific fashion. Imaging findings may mimic a range of malignant conditions, particularly malignant ovarian disease in women. CASE PRESENTATION We present the case of a 61-year-old Caucasian woman who was referred to the gynaecology service at our institution and was thought to have ovarian malignancy, and requi...