1/7. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Membranous lipodystrophy: MR imaging appearance of the brain.Five patients with membranous lipodystrophy (lipomembranous polycystic osteodysplasia with progressive dementia) underwent magnetic resonance (MR) imaging of the brain. T2-weighted MR images showed atrophied cerebral white matter with dilated ventricles; increased signal intensity of the white matter; and decreased signal intensity of the thalamus, putamen, caudate nucleus, and cerebral cortex. Although each single finding is not specific, the combination of the above MR findings when coupled with skeletal lesions strongly suggests this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. Gowers local panatrophy.Gowers local panatrophy is a rare disease of skin, subcutaneous and muscular tissues, occurring multifocally and related to the syndromes of congenital or acquired lipodystrophy, although it presents similarities with other connective tissue disorders such as scleroderma. We report here the clinical and electromyographic findings in two patients with local panatrophy and emphasize its benign course and its similarity to scleroderma circumscripta.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Facial reconstruction in partial lipodystrophy.lipodystrophy is a rare disease characterized by progressive disappearance of the subcutaneous fat of the upper part of the body. Accompanying abnormalities of carbohydrate and lipid metabolism, diabetes, nephritis, and low levels of complement are frequent. The most striking clinical features are the extremely hollow cheeks, making the normal facial skeleton rather prominent. Very little has been reported on facial reconstruction in such patients. A 16-year-old girl is presented who was successfully reconstructed after the atrophic process arrested spontaneously. Bilateral dermal fat grafts from the buttocks were used in a one-stage procedure. Nine months later, when no more resorption of fat occurred, some trimming of the grafts was necessary. A good result was achieved.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case.Congenital generalized lipodystrophy (CGL) is a rare disease, the main symptoms of which are a reduction of systemic subcutaneous fat, characteristic facial features, hypertrichosis, and insulin-resistant diabetes. We report herein the unusual case of a 25-year-old man with CGL in whom gas gangrene developed, an association which has never before been encountered.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. epilepsy in congenital lipodystrophy. Case report.A case of congenital lipodystrophy complicated by complex-partial epilepsy is reported in a nine-year-old girl. The peculiarity of this rare case is represented by partial complex epilepsy with diffuse electroencephalographic alterations represented by a continuous seizure-like pattern that persisted unmodified despite the successful antiepileptic treatment. Although the etiopathology of lipodystrophy is, at present, still elusive, we hypothesize that the primitive dysfunction of lipidic metabolism plays a critical role in both determining central nervous system (CNS) alterations and the findings that characterized this extremely rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. Facial contour reconstruction in lipodystrophy using a double paddle dermis-fat radial forearm free flap.Facial lipodystrophy is a relatively rare disease and very little has been reported concerning the reconstruction of this facial deformity compared with Romberg's disease. In this article we report a new surgical procedure using a double paddle radial forearm dermis--fat free flap. By using this unique flap, we could reconstruct soft tissue defects on both cheeks in a one-stage operation using one flap. In the previous conventional procedure, two flaps are required for the reconstruction of bilateral defects on the face. Therefore, we also made a comparison between our flap and the conventional flap with regard to their advantages and disadvantages. Although this is a limited experience, we think using this flap is a preferable method of treating facial lipodystrophy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |