11/289. hiv-1 protease inhibitor-associated partial lipodystrophy: clinicopathologic review of 14 cases. BACKGROUND: A novel type of acquired partial lipodystrophy resulting from chronic treatment with hiv-1 protease inhibitor drugs has recently been described. OBJECTIVE: We studied the clinical and histopathologic features of a series of patients with hiv-1 protease inhibitor-associated lipodystrophy to evaluate the frequency of associated abnormalities. methods: The study group consisted of 14 consecutive HIV-infected patients receiving treatment with hiv-1 protease inhibitors, who experienced partial lipodystrophy. Clinical (including anthropometric data) and histopathologic findings, as well as biochemical and virologic data, were evaluated. RESULTS: A significant loss of fat in the face and extremities was associated with fat deposition on the abdomen, breast, and dorsocervical fat pad. Central obesity was frequently present. Histopathologic features disclosed a peculiar type of involutional lipodystrophy. hypertriglyceridemia was detected in 78.5% of patients. Low serum levels of cholesterol-high-density lipoprotein and high cholesterol-very-low-density lipoprotein were noted. hyperglycemia, hypercholesterolemia, or hyperinsulinemia were occasionally detected. CONCLUSION: hiv-1 protease inhibitor-associated lipodystrophy represents a new entity with peculiar clinical and histopathologic features. Metabolic associated abnormalities may imply a risk of future atherogenic complications. ( info) |
12/289. A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. The authors describe a case of a 43-year-old woman affected by acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. Moreover, they review the literature on pathogenetic mechanisms suspected to be involved in partial lipodystrophy and their association with autoimmune diseases. ( info) |
13/289. The role of plastic surgery in the management of airway obstruction. A patient with the rare genetic disease of mitochondrial oxidative phosphorylation is presented. The phenotypic presentation included localized, idiosyncratic lipodystrophy that caused life-threatening respiratory obstruction. Plastic surgical excision and suction-assisted lipoplasty of huge deposits of fat and skin led to marked improvement in patient posture and ventilation. This rare disorder, stages of treatment, and salient references are discussed. ( info) |
| Lipodystrophies, characterized by reduction of subcutaneous fat over part or all of the body surface, are uncommon. Their causes are unknown. Recently, lipodystrophy has been reported in human immunodeficiency virus (HIV)-infected patients taking protease inhibitors, which have been recommended since 1996 as standard therapy for HIV disease in combination with nucleoside analogues. In these cases, lipodystrophy consists of an association of peripheral lipoatrophy with central adiposity. We report four HIV-infected men on protease inhibitors who developed a disfiguring lipodystrophy. In three of them, the protease inhibitor was administered for a mean duration of 21.5 months (range 19-23) with good immunological and virological responses. Patient 4 had been treated for 2 years with successive combinations of protease inhibitors with nucleoside analogues without success. The four patients progressively developed an increase in abdominal girth associated with fat wasting of the face and legs. Two of them had recurrent paronychia of the great toes. Triglyceride levels were moderately increased in all patients, and one had a slightly increased cholesterol level. One patient had elevated glucose and insulin plasma levels during a glucose tolerance test. In two patients, a deep biopsy taken from the thigh showed thinning of the subcutaneous fat without other morphological changes. Computed tomographic scans of the face and abdomen confirmed the loss of almost all subcutaneous fat of the cheek and temporal regions, and abdominal perivisceral fat accumulation. For patients 1-3, the protease inhibitor was replaced by a non-nucleoside reverse transcriptase inhibitor. Nine months later, dysmorphic changes had not regressed, but lipid abnormalities had returned to normal and the paronychia had disappeared. ( info) |
15/289. Facial contour restoration in Barraquer-Simons syndrome using two free anterolateral thigh flaps. Barraquer-Simons syndrome, or cephalothoracic lipodystrophy, is characterized by fat atrophy of an obscure pathogenesis involving the face and, eventually, the thoracic region. Simultaneously, fat hypertrophy of the lower extremities, a nephropathy, and complement anomalies may be observed. We presented two patients with the typical features of this disease, as well as a previously undescribed vascular and perivascular inflammation of the facial arteries and veins that caused problems with microvascular anastomosis. Both patients were treated with a bilateral transfer of the anterolateral thigh flap, which has not been reported previously. In contrast to other transfers previously reported, the fat tissue of this flap is never affected by the disease and is redundantly present. Placing the fascia of the flaps toward the skin allows for strong fixation to the temporal region and guarantees a stable result with a smooth facial contour. ( info) |
16/289. Lipoatrophic panniculitis and chromosome 10 abnormality. We report a 3-year-old girl with a 12-month history of an acquired lipoatrophy that was rapidly progressive. Her karyotype revealed additional material on chromosome 10 at the 10q26 location. The human pancreatic lipase gene maps to chromosome 10q24-26, and we postulate an association. Lipoatrophic panniculitis describes the panniculitides in which atrophy is a feature. The classification of these diseases is confusing in the literature and the precise diagnosis still relies on a combination of clinical and laboratory assessment. Our finding of a chromosomal abnormality on chromosome 10q26 has not been described previously. ( info) |
17/289. Nasu-Hakola disease in two Tunisian siblings: new radiological findings. We report radiological features of a biopsy-proven early infantile form of Nasu-Hakoka disease in two Tunisian sisters with new bony and cerebral findings. ( info) |
18/289. Membranous lipodystrophy presenting with palilalia: a PET study of cerebral glucose metabolism. A case of membranous lipodystrophy (Nasu-Hakola disease; NHD) associated with palilalia was reported. A 38-year-old Japanese woman developed walking difficulty in her twenties. At age 35 she manifested neuropsychiatric symptoms characterized by euphoria, palilalia and dementia. A bone marrow biopsy showed periodic acid Schiff-positive membranous cystic lesions in the adipose tissue. Positron emission tomography with (18F)-2-fluoro-2-deoxy-D-glucose disclosed that regional cerebral glucose metabolism was decreased in the bilateral frontal white matter with mild hypometabolism in the thalamus and basal ganglia; all predominantly on the right. Taken together with the previous postmortem findings, it is postulated that frontal lobe hypofunction, predominantly in the right hemisphere, produced the unique neuropsychiatric symptoms in this patient. ( info) |
19/289. A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes. We studied two patients (a 54-year-old woman and her 16-year-old son) with familial benign hypocalciuric hypercalcaemia (FBHH) associated with severe insulin resistant diabetes in the context of a partial lipodystrophic syndrome. Sequencing of the entire coding sequence of the calcium-sensing receptor (CaR) gene revealed a novel heterozygous mutation at codon 395, leading to the substitution of a cysteine by an arginine residue (Cys395Arg) in the extracellular ligand-binding domain. This mutation was absent in two normocalcaemic relatives and in 54 control subjects. It was recently shown, in transfection studies, that the substitution of this amino acid results in incomplete receptor processing, a severe decrease in cell surface expression and altered signal transduction (Fan et al., 1998). This mutation is therefore likely to be responsible of the FBHH phenotype. A pathophysiological link between this mutation and insulin resistance remains unclear. ( info) |
20/289. Barraquer-Simons lipodystrophy, Raynaud's phenomenon and cutaneous vasculitis. We report a 32-year-old man who presented with a 2-year history of unexplained weight loss and symptoms of Raynaud's phenomenon. Clinical examination and investigations were consistent with a diagnosis of acquired partial lipodystrophy (Barraquer-Simons disease). This patient also exhibited an associated cutaneous vasculitis and peripheral perniotic changes. He had normal renal function and glucose tolerance and no immunological abnormality has been detected in his serum to date. The absence of C3-nephritic factor in the presence of overt lipodystrophy suggests that there may be another factor or immunological mediator responsible for the subcutaneous changes seen in patients with lipodystrophy. ( info) |