1/140. Partial lipodystrophy presenting with myopathy.A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/140. Lipodystrophia centrifugalis abdominalis infantilis in a 4-year-old Caucasian girl: association with partial iga deficiency and autoantibodies.We report the third case of lipodystrophia centrifugalis abdominalis outside East asia. A 4-year-old Caucasian girl developed an area of bluish erythema on the left side of the lower abdomen which spread centrifugally to the umbilical and inguinal areas with depression of the skin resulting from the loss of subcutaneous fat, surrounded by an erythematous border. This unusual skin disease was characterized by clinical and histological examination. Laboratory tests revealed a partial iga deficiency, antinuclear antibodies and IgG antibodies against gliadin.- - - - - - - - - - ranking = 307.92311977368keywords = subcutaneous fat, fat (Clic here for more details about this article) |
3/140. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown. A semi-automated genome-wide scan with a set of highly polymorphic short tandem repeats (STR) was carried out in 17 well-characterized pedigrees and identified a locus for CGL to chromosome 9q34. The maximum two-point lod score obtained was 3.6 at D9S1818 (theta(max) = 0.05). There was evidence for genetic heterogeneity (alpha = 0.73) and 2 of the pedigrees were unlinked. Multipoint linkage analysis excluding the 2 unlinked families yielded a peak lod score of 5.4 between loci D9S1818 and D9S1826. The CGL1 critical region harbors a plausible candidate gene encoding the retinoid x receptor alpha (RXRA) that plays a central role in adipocyte differentiation. Identification of the CGL gene(s) will contribute to our understanding of the adipocyte differentiation and elucidation of the mechanisms of insulin resistance in disorders of adipose tissue.- - - - - - - - - - ranking = 41.486634526175keywords = adipose (Clic here for more details about this article) |
4/140. Newborn radial nerve palsy: report of four cases and review of published reports.Four newborns presented with isolated radial nerve palsy during the first 2 days of life. In three, there was a history of failure of progression of labor, which may have resulted in prolonged radial nerve compression. Furthermore, three infants had fat necrosis of the upper arm above the elbow, suggestive of compression of the radial nerve in the region of the spiral groove. Significant recovery of function was evident within 1 month in all four infants. The authors review published reports about the rare condition of isolated radial nerve palsy in the newborn.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
5/140. Vasculitis-induced membranous fat necrosis.Membranous fat necrosis (MFN) a distinct degenerative process of adipose tissue, is characterised by the presence of membranocystic lesions (MCLs) superimposed on a background of typical traumatic-type fat necrosis. MCLs are cysts, of varying size and shape, that are lined by an eosinophilic, crenulated membrane, having the staining properties of ceroid. Although MFN has been documented in varying systemic adipose tissue sites and in tumours, the pathogenesis of this pathological curiosity is unknown. To date, an ischemic basis for MFN has been the most proximate, and atherosclerosis and venous insufficiency, due to large and medium vessel disease, have been the most popular underlying clinical disorders. Although systemic vasculitis has been quoted as the underlying ischemic disorder in some patients, vasculitis has not been commented on nor demonstrated in tissue sections in association with MFN. In,reporting vasculitis-induced MFN, we document the occurrence of MFN in association with uncommon causes of vasculitis, namely: 1) Granulomatous vasculitis in a post-herpetic zosteriform scar; 2) cytomegalovirus-induced vasculitis in the clinical setting of systemic lupus erythematosus; and 3) Lymphocytic vasculitis in a tetanus toxoid immunization site reaction.- - - - - - - - - - ranking = 47.486634526175keywords = adipose, fat (Clic here for more details about this article) |
6/140. 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.- - - - - - - - - - ranking = 3keywords = fat (Clic here for more details about this article) |
7/140. 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.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
8/140. lipodystrophy associated with protease inhibitors.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.- - - - - - - - - - ranking = 925.76935932104keywords = subcutaneous fat, fat (Clic here for more details about this article) |
9/140. 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.- - - - - - - - - - ranking = 3keywords = fat (Clic here for more details about this article) |
10/140. 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.- - - - - - - - - - ranking = 20.743317263087keywords = adipose (Clic here for more details about this article) |
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