RESUMO
Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. The etiology of several lipodystrophies is well known. However, the cause of many others remains unknown. The commonest lipodystrophy worldwide is secondary to highly active anti-retroviral therapy in HIV-infected patients. By contrast, primary lipodystrophies (those not associated to any known disease or condition) are much less common and represent a diagnostic challenge. The major complications of lipodystrophies are metabolic, often resulting in severe insulin resistance, diabetes and dyslipidemia. No cure is available for lipodystrophies but the supplementation with recombinant leptin potently controls the metabolic abnormalities when there is a leptin deficiency. Herein, we review the clinical presentation, diagnostic process and therapeutic principles of the main primary lipodystrophy syndromes.
Assuntos
Humanos , Lipodistrofia/classificação , Lipodistrofia/diagnóstico , Lipodistrofia/genética , Lipodistrofia/tratamento farmacológico , Diagnóstico DiferencialRESUMO
Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. The etiology of several lipodystrophies is well known. However, the cause of many others remains unknown. The commonest lipodystrophy worldwide is secondary to highly active anti-retroviral therapy in HIV-infected patients. By contrast, primary lipodystrophies (those not associated to any known disease or condition) are much less common and represent a diagnostic challenge. The major complications of lipodystrophies are metabolic, often resulting in severe insulin resistance, diabetes and dyslipidemia. No cure is available for lipodystrophies but the supplementation with recombinant leptin potently controls the metabolic abnormalities when there is a leptin deficiency. Herein, we review the clinical presentation, diagnostic process and therapeutic principles of the main primary lipodystrophy syndromes.
Assuntos
Lipodistrofia , Diagnóstico Diferencial , Humanos , Lipodistrofia/classificação , Lipodistrofia/diagnóstico , Lipodistrofia/tratamento farmacológico , Lipodistrofia/genéticaRESUMO
INTRODUCTION: The objective of this study was to evaluate the effect of ultrasound and the technique of phonophoresis with hyaluronidase in patients with cellulite edematous type II in the gluteal region. METHODS: Forty-two individuals, all females, were selected and randomly divided into two groups with 21 patients in each. Group I was treated with ultrasound without hyaluronidase and Group II was treated with ultrasound with hyaluronidase. To evaluate individuals, inspection, palpation, photography data and diagnostic ultrasound were performed before and after the treatment. The gluteal region was divided into four areas of 2.5 cm(2); each area received an application of ultrasound. RESULTS: After 10 days of application, both treatments were effective in improving skin appearance and reducing its thickness (epidermis and dermis), as well as that of the hypodermis (p > 0.05). Ultrasound with hyaluronidase induced a larger reduction in skin thickness in the upper medial quadrant and in the lower lateral and medial quadrants, compared to treatment without hyaluronidase. Moreover, there was a significant reduction of the hypodermis in the upper lateral quadrant with hyaluronidase (p > 0.05). CONCLUSION: Both treatments effectively reduced the thickness of skin and the hypodermis; however, the group treated with hyaluronidase-associated ultrasound showed more significant results than that treated with ultrasound only.
Assuntos
Técnicas Cosméticas , Hialuronoglucosaminidase/uso terapêutico , Lipodistrofia/terapia , Terapia por Ultrassom , Adolescente , Adulto , Feminino , Humanos , Lipodistrofia/classificação , Pele/diagnóstico por imagem , Dobras Cutâneas , Ultrassonografia , Adulto JovemRESUMO
A lipodistrofia ginóide (celulite) é uma afecção dermatológica comum entre as mulheres. Uma das suas formas de avaliação é a inspeção visual por meio da fotogrametria. Entretanto, não foram encontrados estudos que verifiquem a repetibilidade e reprodutibilidade dessa avaliação. O objetivo deste estudo foi verificar a confiabilidade intra e interexaminadores da avaliação da celulite por meio da fotogrametria. Foram fotografadas e avaliadas as regiões glúteas de 50 mulheres (25,14+-4,45anos). A reprodutibilidade foi testada pela avaliação da mesma fotografia por dois examinadores em duas ocasiões diferentes, com intervalo de um ano;...
Gynoid lypodystrophy (cellulitis) is a common condition among women. One of its forms of evaluation is the visual inspection by photogrammetry. However, no studies could be found in literature on the repeatability and reproducibility of such evaluation. The purpose of this study was to assess reliability intra and interexaminer of cellulitis evaluation by photogrammetry. The gluteal regions of 50 women (mean age 26.14±4.45 years) were photographed and evaluated. Reproducibility was tested by evaluation of the same photograph by two examiners on two one-year interval occasions; repeatability was assessed by a single examiner on two occasions one week apart. The Kappa index was applied. Results showed substantial correlation (ê=0.70) between examiners for cellulite degrees in upperbuttock, and moderate correlation (ê=0.50) for cellulite degrees in lower buttock. As to repeatability, analyses showed excellent correlation (ê=0.81) for cellulitis degree in upper buttock and substantial correlation (ê=0.75) in lower buttock. The method proposed for classification of different gynoid lypodystrophy degrees byphotogrammetry hence showed acceptable reliability intra and inter-examiner for the majority of evaluated regions, with the exception of the lower buttock...
Assuntos
Humanos , Feminino , Adulto , Lipodistrofia/classificação , Fotogrametria , Reprodutibilidade dos Testes , MulheresRESUMO
Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases called laminopathies. Here we describe the case of a 15-year-old girl who was referred to our service due to diabetes mellitus and severe hypertriglyceridemia. Physical examination revealed generalized loss of subcutaneous fat, confirmed by DEXA (total body fat 8.6 percent). As the patient presented with pubertal-onset of generalized lipodystrophy and insulin resistance, molecular analysis of the LMNA gene was performed. We identified a heterozygous substitution in exon 1 (c.29C>T) predicting a p.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene.
As lipodistrofias são um grupo heterogêneo de doenças caracterizadas por perda de tecido adiposo e complicações metabólicas. As formas hereditárias mais importantes de lipodistrofias são: lipodistrofia congênita generalizada e lipodistrofia parcial familiar (LDPF). LDPF resulta de mutações no gene LMNA que codificam as lâminas tipo A. Além da LDPF, mutações no gene LMNA são responsáveis por outras doenças hereditárias, denominadas laminopatias. Descrevemos o caso de uma paciente de 15 anos de idade encaminhada por diabetes melito e hipertrigliceridemia grave. Ao exame físico, apresentava perda generalizada de gordura subcutânea que foi confirmada por DEXA (gordura corporal total 8,6 por cento). Como a paciente apresentava perda de gordura de início na puberdade e resistência insulínica, foi realizada análise molecular do gene LMNA. Identificamos uma substituição em heterozigose no éxon 1 (c.29C>T), resultando na mutação p.T10I. Em sumário, um caso de fenótipo atípico de lipodistrofia generalizada devido à mutação de novo p.T10I no gene LMNA é descrito.
Assuntos
Adolescente , Feminino , Humanos , Resistência à Insulina/genética , Lamina Tipo A/genética , Lipodistrofia/genética , Mutação/genética , Sequência de Aminoácidos , Heterozigoto , Lipodistrofia Generalizada Congênita , Lipodistrofia/classificação , Lipodistrofia/patologia , FenótipoRESUMO
Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases called laminopathies. Here we describe the case of a 15-year-old girl who was referred to our service due to diabetes mellitus and severe hypertriglyceridemia. Physical examination revealed generalized loss of subcutaneous fat, confirmed by DEXA (total body fat 8.6%). As the patient presented with pubertal-onset of generalized lipodystrophy and insulin resistance, molecular analysis of the LMNA gene was performed. We identified a heterozygous substitution in exon 1 (c.29C>T) predicting a p.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene.
Assuntos
Resistência à Insulina/genética , Lamina Tipo A/genética , Lipodistrofia/genética , Mutação/genética , Adolescente , Sequência de Aminoácidos , Feminino , Heterozigoto , Humanos , Lipodistrofia/classificação , Lipodistrofia/patologia , Lipodistrofia Generalizada Congênita , FenótipoRESUMO
El objetivo de este estudio es comparar la durabilidad de la plicatura de los rectos abdominales con técnica convencional versus plicatura con sección de la hoja anterior de la vaina de los rectos y sutura en dos planos (técnica de San Martín). Para ello se realizó el seguimiento de 20 pacientes a quienes se les practicó dicha plicatura como parte de una dermolipectomía convencional
Assuntos
Estudo Comparativo , Lipodistrofia/classificação , Lipodistrofia/diagnóstico , Lipectomia/métodos , Anestesia Geral , Retalhos Cirúrgicos , Técnicas de SuturaRESUMO
A Síndrome de Madelung é um tipo raro de lipodistrofia descrita pela primeira vez em 1888 por Otto Madelung. Deste entäo, apenas 200 casos foram relatados na literatura. A condiçäo, de etiologia ainda desconhecida, caracteriza-se por uma deposiçäo de tecido adiposo simetricamente em: pescoço, ombros, regiöes supraclaviculares, suboccipital, tronco e regiäo proxima dos membros superiores, determinando um desfiguramento progressivo do doente. Embora usualmente assintomática, a doença pode causar complicaçöes severas, tais como: compressäo traqueal, laríngea ou mediastinal. O diagnóstico diferencial deve incluir outras lesöes do tecido celular cutâneo, a saber: lipomas, angiolipomas, neurofibromas, sarcomas, bem como outras lipomatoses. A excisäo cirúrgica é o único método efetivo de tratamento, sendo a operaçäo em geral trabalhosa devido à natureza hipervascularizada e fibrosa do tecido lipomatoso. Relata-se um caso de Síndrome de Madelung que está sendo acompanhado pelo serviço de Cirurgia Geral do HC-UFPR. O paciente, alvo de olhares curiosos pelo seu aspecto, vem sendo submetido a dermolipectomias e lipoaspiraçöes periódicas