RESUMEN
Lipomatoses are benign proliferation of adipose tissue. Lipomas (benign fat tumors) are the most common component of lipomatosis. They may be unique or multiple, encapsulated or not, subcutaneous or sometimes visceral. In some cases, they form large areas of non-encapsulated fat hypertrophy, with a variable degree of fibrosis. They can develop despite the absence of obesity. They may be familial or acquired. At difference with lipodystrophy syndromes, they are not associated with lipoatrophy areas, except in some rare cases such as type 2 familial partial lipodystrophy syndromes (FPLD2). Their metabolic impact is variable in part depending on associated obesity. They may have functional or aesthetic consequences. Lipomatosis may be isolated, be part of a syndrome, or may be visceral. Isolated lipomatoses include multiple symmetrical lipomatosis (Madelung disease or Launois-Bensaude syndrome), familial multiple lipomatosis, the painful Dercum's disease also called Adiposis Dolorosa or Ander syndrome, mesosomatic lipomatosis also called Roch-Leri lipomatosis, familial angiolipomatosis, lipedema and hibernomas. Syndromic lipomatoses include PIK3CA-related disorders, Cowden/PTEN hamartomas-tumor syndrome, some lipodystrophy syndromes, and mitochondrial diseases, especially MERRF, multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson disease, Pai or Haberland syndromes. Finally, visceral lipomatoses have been reported in numerous organs and sites: pancreatic, adrenal, abdominal, epidural, mediastinal, epicardial The aim of this review is to present the main types of lipomatosis and their physiopathological component, when it is known.
Asunto(s)
Lipoma , Lipomatosis , Humanos , Lipomatosis/patología , Lipoma/patología , Lipoma/genética , Lipomatosis Simétrica Múltiple/patología , Lipomatosis Simétrica Múltiple/diagnóstico , Lipodistrofia/patología , Lipodistrofia/genética , Tejido Adiposo/patología , Adiposis Dolorosa/patología , Adiposis Dolorosa/diagnósticoRESUMEN
BACKGROUND: The Triggering Receptor Expressed on Myeloid Cells 2 protein (TREM2) plays a crucial role in various biological processes, including osteoclast differentiation, and disease-associated microglia (DAM) activation to regulate neuroinflammation, and phagocytosis in the brain. Genetic variations in TREM2 are implicated in neurodegenerative disorders, such as Nasu-hakola disease (NHD), characterized by bone lesions, neuropsychiatric disorders, and early-onset dementia. METHODS: We studied 3 siblings with suspected NHD. Whole-exome sequencing was conducted on the proband to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants in the two other affected siblings, a healthy sister, and the parents. RESULTS: We identified a novel homozygous deletion (c.549del; p.(Leu184Serfs*5)) in TREM2. Our literature review reveals 16 TREM2 mutations causing early-onset dementia and bone lesions. CONCLUSION: These findings, alongside previous research, elucidate the clinical spectrum of TREM2-related diseases, aiding accurate diagnosis and patient care. This knowledge is vital for understanding TREM2-dependent DAM and its involvement in the pathogenesis of neurodevelopmental disorders which can help to develop targeted therapies and improve outcomes for TREM2-affected individuals.
Asunto(s)
Homocigoto , Lipodistrofia , Glicoproteínas de Membrana , Osteocondrodisplasias , Receptores Inmunológicos , Hermanos , Panencefalitis Esclerosante Subaguda , Femenino , Humanos , Consanguinidad , Lipodistrofia/genética , Lipodistrofia/patología , Glicoproteínas de Membrana/genética , Osteocondrodisplasias/genética , Osteocondrodisplasias/patología , Linaje , Receptores Inmunológicos/genética , Panencefalitis Esclerosante Subaguda/genética , Panencefalitis Esclerosante Subaguda/patologíaRESUMEN
Obesity has emerged as a prominent risk factor for the development of malignant tumors. However, the existing literature on the role of adipocytes in the tumor microenvironment (TME) to elucidate the correlation between obesity and cancer remains insufficient. Here, we aim to investigate the formation of cancer-associated adipocytes (CAAs) and their contribution to tumor growth using mouse models harboring dysfunctional adipocytes. Specifically, we employ adipocyte-specific BECN1 KO (BaKO) mice, which exhibit lipodystrophy due to dysfunctional adipocytes. Our results reveal the activation of YAP/TAZ signaling in both CAAs and BECN1-deficient adipocytes, inducing adipocyte dedifferentiation and formation of a malignant TME. The additional deletion of YAP/TAZ from BaKO mice significantly restores the lipodystrophy and inflammatory phenotypes, leading to tumor regression. Furthermore, mice fed a high-fat diet (HFD) exhibit decreased BECN1 and increased YAP/TAZ expression in their adipose tissues. Treatment with the YAP/TAZ inhibitor, verteporfin, suppresses tumor progression in BaKO and HFD-fed mice, highlighting its efficacy against mice with metabolic dysregulation. Overall, our findings provide insights into the key mediators of CAA and their significance in developing a TME, thereby suggesting a viable approach targeting adipocyte homeostasis to suppress cancer growth.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Adipocitos , Dieta Alta en Grasa , Ratones Noqueados , Proteínas Coactivadoras Transcripcionales con Motivo de Unión a PDZ , Microambiente Tumoral , Proteínas Señalizadoras YAP , Animales , Ratones , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Proteínas Adaptadoras Transductoras de Señales/genética , Adipocitos/metabolismo , Adipocitos/patología , Proteínas de Ciclo Celular/metabolismo , Proteínas de Ciclo Celular/genética , Transformación Celular Neoplásica/metabolismo , Transformación Celular Neoplásica/genética , Transformación Celular Neoplásica/patología , Dieta Alta en Grasa/efectos adversos , Progresión de la Enfermedad , Lipodistrofia/metabolismo , Lipodistrofia/patología , Lipodistrofia/genética , Ratones Endogámicos C57BL , Neoplasias/metabolismo , Neoplasias/patología , Neoplasias/genética , Obesidad/metabolismo , Obesidad/patología , Transducción de Señal , Transactivadores/metabolismo , Transactivadores/genética , Factores de Transcripción/metabolismo , Factores de Transcripción/genética , Verteporfina/farmacología , Proteínas Señalizadoras YAP/metabolismoRESUMEN
Fibrosis is primarily described as the deposition of excessive extracellular matrix, but in many tissues it also involves a loss of lipid or lipid-filled cells. Lipid-filled cells are critical to tissue function and integrity in many tissues including the skin and lungs. Thus, loss or depletion of lipid-filled cells during fibrogenesis, has implications for tissue function. In some contexts, lipid-filled cells can impact ECM composition and stability, highlighting their importance in fibrotic transformation. Recent papers in fibrosis address this newly recognized fibrotic lipodystrophy phenomenon. Even in disparate tissues, common mechanisms are emerging to explain fibrotic lipodystrophy. These findings have implications for fibrosis in tissues composed of fibroblast and lipid-filled cell populations such as skin, lung, and liver. In this review, we will discuss the roles of lipid-containing cells, their reduction/loss during fibrotic transformation, and the mechanisms of that loss in the skin and lungs.
Asunto(s)
Lipodistrofia , Piel , Humanos , Fibrosis , Piel/patología , Pulmón/patología , Matriz Extracelular/patología , Fibroblastos/patología , Lipodistrofia/patología , LípidosRESUMEN
Adipose dysfunction in lipodystrophic SEIPIN deficiency is associated with multiple metabolic disorders and increased risks of developing cardiovascular diseases, such as atherosclerosis, cardiac hypertrophy, and heart failure. Recently, adipose transplantation has been found to correct adipose dysfunction and metabolic disorders in lipodystrophic Seipin knockout mice; however, whether adipose transplantation could improve lipodystrophy-associated cardiovascular consequences is still unclear. Here, we aimed to explore the effects of adipose transplantation on lipodystrophy-associated metabolic cardiovascular diseases in Seipin knockout mice crossed into atherosclerosis-prone apolipoprotein E (Apoe) knockout background. At 2 months of age, lipodystrophic Seipin/Apoe double knockout mice and nonlipodystrophic Apoe knockout controls were subjected to adipose transplantation or sham operation. Seven months later, mice were euthanized. Our data showed that although adipose transplantation had no significant impact on endogenous adipose atrophy or gene expression, it remarkably increased plasma leptin but not adiponectin concentration in Seipin/Apoe double knockout mice. This led to significantly reduced hyperlipidemia, hepatic steatosis, and insulin resistance in Seipin/Apoe double knockout mice. Consequently, atherosclerosis burden, intraplaque macrophage infiltration, and aortic inflammatory gene expression were all attenuated in Seipin/Apoe double knockout mice with adipose transplantation. However, adipocyte morphology, macrophage infiltration, or fibrosis of the perivascular adipose tissue was not altered in Seipin/Apoe double knockout mice with adipose transplantation, followed by no significant improvement of vasoconstriction or relaxation. In conclusion, we demonstrate that adipose transplantation could alleviate lipodystrophy-associated metabolic disorders and atherosclerosis but has an almost null impact on perivascular adipose abnormality or vascular dysfunction in lipodystrophic Seipin/Apoe double knockout mice.NEW & NOTEWORTHY Adipose transplantation (AT) reverses multiply metabolic derangements in lipodystrophy, but whether it could improve lipodystrophy-related cardiovascular consequences is unknown. Here, using Seipin/Apoe double knockout mice as a lipodystrophy disease model, we showed that AT partially restored adipose functionality, which translated into significantly reduced atherosclerosis. However, AT was incapable of reversing perivascular adipose abnormality or vascular dysfunction. The current study provides preliminary experimental evidence on the therapeutic potential of AT on lipodystrophy-related metabolic cardiovascular diseases.
Asunto(s)
Tejido Adiposo , Aterosclerosis , Subunidades gamma de la Proteína de Unión al GTP , Lipodistrofia , Ratones Noqueados , Animales , Ratones , Tejido Adiposo/metabolismo , Tejido Adiposo/trasplante , Apolipoproteínas E/genética , Apolipoproteínas E/deficiencia , Apolipoproteínas E/metabolismo , Aterosclerosis/genética , Aterosclerosis/metabolismo , Aterosclerosis/patología , Subunidades gamma de la Proteína de Unión al GTP/deficiencia , Subunidades gamma de la Proteína de Unión al GTP/genética , Subunidades gamma de la Proteína de Unión al GTP/metabolismo , Proteínas de Unión al GTP Heterotriméricas/genética , Proteínas de Unión al GTP Heterotriméricas/metabolismo , Resistencia a la Insulina , Leptina/sangre , Leptina/metabolismo , Lipodistrofia/metabolismo , Lipodistrofia/genética , Lipodistrofia/patología , Ratones Endogámicos C57BLRESUMEN
Introdução: Atualmente com o aumento das gastroplastias redutoras (cirurgia bariátrica) e grande perda ponderal, há também um aumento na procura destes pacientes pela cirurgia plástica. Uma das características destes pacientes é o excesso de tecido dermogorduroso que causa deformidades, principalmente nos membros inferiores, acometendo a região trocantérica. Objetivo: Relatar um caso de dermolipectomia trocantérica em paciente pós-cirurgia bariátrica, onde a lipoaspiração por si só não resolveria a correção da deformidade. Relato de caso: IPMS, sexo feminino, 55 anos, histórico de gastroplastia redutora (cirurgia bariátrica) com grande perda ponderal. Relata desconforto importante com a lipodistrofia e extensa flacidez em região trocantérica bilateral. Após avaliação pela equipe, foi optado por realizar dermolipectomia trocantérica bilateral, em janeiro de 2019, no Serviço de Cirurgia Plástica Osvaldo Saldanha. Discussão: Nos casos de lipodistrofia trocantérica com deformidades graves, a cicatriz da dermolipectomia em relação à deformidade é favorável quanto a escolha desta técnica, pois a lipoaspiração poderá agravar ainda mais a deformidade, sendo mandatório utilizar a técnica de dermolipectomia trocantérica para corrigila. Quanto à lipodistrofia com deformidade moderada há dúvida entre a relação do benefício e a deformidade resultante, sendo aplicada a técnica de acordo com a necessidade do paciente e, por fim, nos casos de lipodistrofia com deformidade leve, opta-se pela lipoaspiração devido à correção ser realizada sem grandes cicatrizes aparentes. Conclusão: Portanto, a lipoaspiração tem benefício nos casos de adiposidade localizada, limitando as indicações da técnica de dermolipectomia, em especial na região trocantérica, sem invalidá-la para casos selecionados, como o descrito neste relato de caso.
Introduction: Currently, with the increase in reducing gastroplasty (bariatric surgery) and the great weight loss, there is also an increase in the demand of these patients for plastic surgery. One of the characteristics of these patients is the excess of dermal adipose tissue that causes deformities, especially in the lower limbs, affecting the trochanteric region. Objective: To report a case of trochanteric dermolipectomy in a patient after bariatric surgery, where liposuction alone would not solve the correction of the deformity. Case report: IPMS, female, 55 years old, history of reducing gastroplasty (bariatric surgery) with great weight loss. She reports significant discomfort with lipodystrophy and extensive flacidity in the bilateral trochanteric region. After the team's evaluation, it was decided to perform bilateral trochanteric dermolipectomy, in January 2019, at the Plastic Surgery Service Osvaldo Saldanha Discussion: In cases of trochanteric lipodystrophy with severe deformities, the scar of dermolipectomy in relation to the deformity is favorable in terms of the choice of this technique, since liposuction may further aggravate the deformity, and it is mandatory to use the trochanteric dermolipectomy technique to correct it. Conclusion: Therefore, liposuction is beneficial in cases of localized adiposity, limiting the indications for the dermolipectomy technique, especially in the trochanteric region, without invalidating it for selected cases, as described in this case report.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Historia del Siglo XXI , Complicaciones Posoperatorias , Cirugía Plástica , Obesidad Mórbida , Informes de Casos , Cicatriz , Estudio de Evaluación , Extremidad Inferior , Cirugía Bariátrica , Lipodistrofia/patología , Complicaciones Posoperatorias/cirugía , Cirugía Plástica/efectos adversos , Cirugía Plástica/métodos , Obesidad Mórbida/cirugía , Obesidad Mórbida/complicaciones , Obesidad Mórbida/patología , Cicatriz/cirugía , Extremidad Inferior/cirugía , Cirugía Bariátrica/efectos adversos , Cirugía Bariátrica/métodos , Lipodistrofia , Lipodistrofia/cirugía , Lipodistrofia/complicacionesRESUMEN
Abstract Purpose To collect data capable of pointing out the effects of the ultracavitation treatment on the liver of rabbits after adipose tissue application, by means of histological analyses of the liver and hematological and biochemical exams. Methods This is an experimental study with 12 albino rabbits as sample, which were divided into 3 groups and submitted to a hypercaloric diet for one month. Subsequently, subjects underwent UCV treatment: 3 minutes, 30 W, continuous mode at 100%, every 2 ERAS = 441.02 J/cm2, intensity of 10w/cm2. They were then euthanized and underwent biopsy after 24 hours. Results After 48 hours from the ultracavitation treatment, the animals' livers presented greater amount of fat infiltration if compared to the amount presented 96 hours after the treatment. However, laboratory tests showed no alterations. Values were maintained within normal parameters of cholesterol, triglycerides, liver enzymes, hemoglobin and hematocrit levels. Conclusions This study has identified that infiltrates may appear on livers after the treatment, despite high hematological and biochemical tests results. The fat infiltrates reduction 96 h after treatment suggests lower risks to animal health, if the period between applications is respected.
Asunto(s)
Tejido Adiposo/patología , Ultrasonido Enfocado de Alta Intensidad de Ablación/métodos , Lipodistrofia/patología , Lipodistrofia/terapia , Hígado/patología , Conejos , Aspartato Aminotransferasas/sangre , Valores de Referencia , Triglicéridos/sangre , Hemoglobinas/análisis , Colesterol/sangre , Reproducibilidad de los Resultados , Factores de Riesgo , Resultado del Tratamiento , Alanina Transaminasa/sangre , Ultrasonido Enfocado de Alta Intensidad de Ablación/efectos adversos , Hematócrito , Lipodistrofia/sangreRESUMEN
A síndrome de Barraquer-Simons é uma lipodistrofia caracterizada por progressiva atrofia do tecido celular subcutâneo limitada à parte superior do corpo. Seu acometimento costuma ser simétrico e com evolução craniocaudal, podendo atingir até as coxas. Também é conhecida como lipodistrofia céfalo-torácica ou lipodistrofia parcial progressiva. É uma doença rara, de origem obscura, que geralmente se manifesta no começo da segunda década de vida e tem predominância no sexo feminino. O presente trabalho objetiva trazer uma revisão da literatura e relatar um caso desta rara patologia e sua condução terapêutica, comparando-a a outras modalidades de tratamento disponíveis atualmente. Durante o período de um ano e três meses de seguimento, foram realizadas quatro sessões de enxertia de gordura seguindo os princípios da lipoenxertia estruturada. Por meio desta modalidade terapêutica, foi possível obter uma melhora importante do contorno facial com desaparecimento quase completo das depressões e irregularidades características da doença e preservação do resultado durante o tempo de acompanhamento. Diversos tipos de tratamentos foram descritos como efetivos para as lipodistrofias: uso de materiais aloplásticos, enxertos autólogos, retalhos locais e microcirúrgicos. Cada um deles possui suas vantagem e desvantagens e a escolha dependerá da experiência do cirurgião e da disponibilidade de recursos e materiais específicos em cada centro. A lipoenxertia se mostrou uma forma de tratamento eficaz, simples, segura e de baixo custo para tratamento da síndrome de Barraquer-Simons.
Barraquer-Simons syndrome is a type of lipodystrophy characterized by progressive atrophy of the subcutaneous tissue limited to the upper body. Its involvement is usually symmetrical with craniocaudal evolution, reaching down to the thighs. This syndrome is also known as cephalo-thoracic lipodystrophy or progressive partial lipodystrophy. It is a rare disease of unknown origin that usually manifests at the beginning of the second decade of life and has predominance among women. We report a case and literature review of this rare disease, its therapeutic management, and a comparison with other treatment modalities currently available. During one year and three months follow-up, four sessions of facial fat grafting were performed following the principles of structural fat grafting. The use of this therapeutic modality, improved significantly facial contour, and almost complete disappearance of depressions and irregularities, and preservation were achieved during follow-up time. A number of treatments have been described as effective for lipodystrophy, such as: use of alloplastic materials, autologous grafts, local and microsurgical flaps. Each treatment has advantages and disadvantages. Decision depends on the surgeon's experience, availability of resources, specific materials in each center.
Asunto(s)
Humanos , Femenino , Adulto , Historia del Siglo XXI , Cirugía Plástica , Colgajos Quirúrgicos , Apósitos Biológicos , Tejido Adiposo , Revisión , Artículo de Revista , Enfermedades Raras , Trastornos del Metabolismo de los Lípidos , Cara , Lipodistrofia , Cirugía Plástica/métodos , Colgajos Quirúrgicos/cirugía , Apósitos Biológicos/efectos adversos , Apósitos Biológicos/normas , Tejido Adiposo/patología , Enfermedades Raras/cirugía , Enfermedades Raras/patología , Trastornos del Metabolismo de los Lípidos/cirugía , Trastornos del Metabolismo de los Lípidos/patología , Cara/cirugía , Cara/patología , Lipodistrofia/cirugía , Lipodistrofia/patologíaRESUMEN
INTRODUÇÃO: A valorização da aparência, aliada a padrões e parâmetros impostos pelas indústrias de beleza e moda e difundidos pelas mídias geram questionamentos sobre o real valor da beleza. Distorções nesses parâmetros levam pacientes, insatisfeitos com seus corpos, aos consultórios médicos. Concomitantemente, existem queixas físicas disfuncionais e suas consequências. A Cirurgia Plástica, nesse contexto, tem como objetivo a melhora da qualidade de vida e maior aceitação do próprio corpo. A abdominoplastia ou dermolipectomia abdominal é um procedimento cirúrgico com grande ênfase, mas ainda com poucas avaliações a respeito da imagem pessoal e qualidade de vida no pós-operatório. O objetivo é avaliar a melhoria da qualidade de vida e da imagem corporal nos pacientes submetidos à dermolipectomia abdominal como procedimento eletivo e compreender implicações físico-psicológicas relacionadas aos distúrbios corporais. MÉTODOS: Aplicação do instrumento WHOQOL bref em 15 pacientes do Ambulatório de Cirurgia Plástica do Hospital Universitário da Universidade Federal de Juiz de Fora e da Clínica Plastic Center, portadoras de lipodistrofia abdominal submetidas à dermolipectomia abdominal em três momentos: pré-operatório, dois e seis meses de pós-operatório. RESULTADOS: Após análise dos dados, foi observada melhora na qualidade de vida dos pacientes comparando os resultados nos estágios de pré e pós-operatório, analisados no domínio psicológico com resultados estatisticamente significativos (p < 0,05). No domínio físico, a relação entre as três etapas também é estatisticamente significativa, considerando valor p < 0,07. CONCLUSÕES: A abdominoplastia no tratamento da lipodistrofia abdominal tem impacto na melhora da qualidade de vida destes pacientes, principalmente nos aspectos físico e psicológico, concordando com literatura pré-existente.
INTRODUCTION: The valuation of appearance, combined with patterns and parameters imposed by the beauty and fashion industries, and disseminated by the media, generates questions about the real value of beauty. Distortions in these parameters lead patients, dissatisfied with their bodies, to medical clinics. Concomitantly, there are dysfunctional physical complaints and their consequences. Plastic Surgery, in this context, aims at improving the quality of life and acceptance of one's body. Abdominoplasty, or abdominal dermolipectomy, is a highly used surgical procedure. However, few evaluations regarding the personal image and the quality of life in the postoperative period exist. The objective is to evaluate the improvement of the quality of life and the body image in patients who underwent an abdominal dermolipectomy as an elective procedure, and to understand the physical-psychological implications related to body disorders. METHODS: The WHOQOL-BREF instrument was administered to 15 patients with abdominal lipodystrophy who underwent an abdominal dermolipectomy at the Clinic of Plastic Surgery at the University Hospital of the Federal University of Juiz de Fora and Plastic Center Clinic. The instrument was administered thrice: once during the pre-operative period and then at two and six months postoperatively. RESULTS: On comparing the pre and postoperative stages, we found a statistically significant improvement in the quality of life of patients with respect to the psychological domain (p < 0.05). In the physical domain, the relationship between the three stages was also statistically significant, considering a p value < 0.07. CONCLUSIONS: The use of abdominoplasty in the treatment of abdominal lipodystrophy has an impact on the improvement of the quality of life of these patients, mainly in the physical and psychological domains; this is in agreement with previous studies.
Asunto(s)
Humanos , Adulto , Historia del Siglo XXI , Pacientes , Calidad de Vida , Imagen Corporal , Estudios Prospectivos , Encuestas y Cuestionarios , Estudios Longitudinales , Satisfacción del Paciente , Procedimientos de Cirugía Plástica , Estudio de Evaluación , Abdomen , Características del Estudio , Abdominoplastia , Apariencia Física , Lipodistrofia , Calidad de Vida/psicología , Imagen Corporal/psicología , Encuestas y Cuestionarios/normas , Procedimientos de Cirugía Plástica/métodos , Estética , Estética/psicología , Abdominoplastia/métodos , Abdomen/cirugía , Lipodistrofia/cirugía , Lipodistrofia/patologíaRESUMEN
Membranous lipodystrophy is a distinct type of membranocystic fat necrosis. It is associated with many local and systemic diseases, including vascular disorders. The histopathological changes which characterize this phenomenon are variably sized cysts in the fat lobules of the subcutaneous tissue, which are surrounded by eosinophilic membranes projecting into the cystic space. We report a case of secondary membranous lipodystrophy associated with both hypertension and venous insufficiency.
.Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Necrosis Grasa/patología , Lipodistrofia/patología , Insuficiencia Venosa/patología , Biopsia , Eritema Indurado/patología , Hipertensión/complicaciones , Pierna/irrigación sanguínea , Pierna/patologíaRESUMEN
INTRODUÇÃO O tratamento da Síndrome da Imunodeficiência Adquirida vem sofrendo importantes avanços desde a introdução da terapia antirretroviral altamente ativa, conhecida como HAART (high active antirretroviral therapy). Este tratamento levou à eliminação do vírus na corrente sanguínea e ao aumento na sobrevida, entretanto alterações metabólicas e estruturais tornaram-se evidentes. Uma dessas alterações é a redistribuição de gordura corpórea, também denominada lipodistrofia. Com uma das maiores casuísticas mundiais, o objetivo deste trabalho é demonstrar algumas das alternativas cirúrgicas, bem como os resultados obtidos na tentativa de minimizar o impacto da lipodistrofia. MÉTODO: No período de julho de 2005 a julho de 2013, 510 pacientes portadores de lipodistrofia secundária ao uso de HAART foram operados pela Clínica de Cirurgia Plástica do Hospital Heliópolis. Todos esses pacientes foram submetidos à prévia avaliação clínica e imunológica, sob auxílio da equipe de Infectologia. O presente trabalho foi aprovado pelo Comitê de Ética em Pesquisa da Fundação do ABC. RESULTADO: Dentre os 510 pacientes, 335 eram do sexo feminino e 175 do sexo masculino, com idades variando entre 16 e 74 anos. Quanto aos procedimentos, destacou-se lipoaspiração da giba e dorso, com 199 casos. Quanto à resposta estimulada através de questionário subjetivo, observou-se elevado grau de satisfação, aumento significativo da autoestima e maior adesão ao tratamento antirretroviral. CONCLUSÃO: A correção cirúrgica da lipodistrofia corporal comprovadamente melhora o aspecto estético do paciente que faz uso da HAART; porém, o efeito psicológico e social é ainda mais importante, elevando a autoestima, com diminuição dos estigmas, e proporcionando uma maior adesão ao tratamento antirretroviral.
INTRODUCTION The treatment of acquired immunodeficiency syndrome has undergone important advances since the introduction of highly active antiretroviral therapy (HAART). This treatment led to the elimination of the virus in the bloodstream and increased survival; however, metabolic and structural changes became evident. One of these changes is lipodystrophy, the redistribution of body fat. With one of the largest samples worldwide, the aim of this work was to present some of the various surgical alternatives as well as the results obtained for minimizing the impact of lipodystrophy. METHOD: From July 2005 to July 2013, 510 patients with HAART-associated lipodystrophy underwent surgery in the Clinic of Plastic Surgery, Heliópolis Hospital. All patients submitted to prior clinical and immunological assessments made with the aid of the infectious diseases team. The present study was approved by the Research Ethics Committee of the ABC Foundation. RESULTS: The 510 patients included 335 women and 175 men with an age range of 16-74 years. Liposuction of the cervicodorsal fat pad (buffalo hump) was predominant (199 cases). With regard to the response stimulated through a subjective questionnaire, a high degree of satisfaction was observed with a significant increase in self-esteem and greater adherence to antiretroviral treatment. CONCLUSION: The surgical correction of body lipodystrophy demonstrably improves the aesthetics of patients using HAART; however, its psychological and social effects are even more important since self-esteem increases and stigma decreases, which leads to better adherence to antiretroviral treatment.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Historia del Siglo XXI , Autoimagen , Composición Corporal , Informes de Casos , Serodiagnóstico del SIDA , Immunoblotting , Lipectomía , Infecciones por VIH , Estudios Retrospectivos , Estudios de Cohortes , Síndrome de Inmunodeficiencia Adquirida , VIH , Estudio de Evaluación , Terapia Antirretroviral Altamente Activa , Estética , Lipodistrofia , Serodiagnóstico del SIDA/métodos , Immunoblotting/métodos , Lipectomía/métodos , Infecciones por VIH/patología , Infecciones por VIH/terapia , Síndrome de Inmunodeficiencia Adquirida/patología , Terapia Antirretroviral Altamente Activa/métodos , Lipodistrofia/cirugía , Lipodistrofia/metabolismo , Lipodistrofia/patologíaRESUMEN
A síndrome de Barraquer-Simons, também denominada lipodistrofia parcial progressiva ou lipodistrofia céfalo-torácica, caracteriza-se por perda progressiva do tecido celular subcutâneo, em direção crânio-caudal, de modo simétrico, iniciando na face e envolvendo progressivamente o tronco, membros superiores e inferiores, até as coxas. Nesse trabalho, relata-se o caso de paciente, com síndrome de Barraquer-Simons, sem associação com comorbidades sistêmicas.
Barraquer-Simons syndrome, also called acquired partial lipodystrophy or cephalothoracic lipodystrophy, is a rare form of progressive lipodystrophy, characterized by symmetrical lipoatrophy of subcutaneous adipose tissue starting in the head and spreading to the thorax, upper and lower limbs and thighs. In this work, we report the case of a patient with Barraquer-Simons syndrome without systemic complications.
Asunto(s)
Adulto , Femenino , Humanos , Lipodistrofia/diagnóstico , Lipodistrofia/patología , SíndromeRESUMEN
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.
Asunto(s)
Adolescente , Femenino , Humanos , Resistencia a la Insulina/genética , Lamina Tipo A/genética , Lipodistrofia/genética , Mutación/genética , Secuencia de Aminoácidos , Heterocigoto , Lipodistrofia Generalizada Congénita , Lipodistrofia/clasificación , Lipodistrofia/patología , FenotipoRESUMEN
INTRODUCTION: Gynoid lipodystrophy (cellulite) has been cited as a common dermatological alteration. It occurs mainly in adult women and tends to gather around the thighs and buttocks. Its presence and severity have been related to many factors, including biotype, age, sex, circulatory changes, and, as some authors have suggested, mechanical alterations such as lumbar hyperlordosis. OBJECTIVE: To correlate the degree of cellulite with the angle of lumbar lordosis in asymptomatic women. METHODS: Fifty volunteers were evaluated by digital photos, palpation, and thermograph. The degree of cellulite was classified on a scale of 1-4. Analyses were performed on the superior, inferior, right and left buttocks (SRB, IRB, SLB, ILB), and the superior right and left thighs (SRT, SLT). The volunteers underwent a lateral-view X-ray, and the angle of lumbar lordosis was measured using Cobb's method (inferior endplate of T12 and the superior endplate of S). The data were statistically analyzed using ANOVA and Spearman's correlation. A significance level of 5 percent was adopted. RESULTS: Volunteers had a mean age of 26.1 ± 4.4 years and a mean body mass index of 20.7 ± 1.9 kg/m². There was no significant difference in lumbar lordosis angle between those with cellulite classes 2 and 3 (p > 0.297). There was also no correlation between lumbar lordosis angle and the degree of cellulite (p > 0.085 and r > 0.246). CONCLUSIONS: The analysis suggests that there is no correlation between the degree of cellulite and the angle of lumbar lordosis as measured using Cobb's method.
Asunto(s)
Adulto , Femenino , Humanos , Adulto Joven , Lipodistrofia/patología , Lordosis/patología , Vértebras Lumbares/patología , Lipodistrofia/etiología , Lipodistrofia , Lordosis/complicaciones , Lordosis , Vértebras Lumbares , Examen Físico , Estudios Prospectivos , Postura/fisiología , Estadísticas no Paramétricas , Adulto JovenRESUMEN
Se comunica el caso de un paciente masculino de 24 años de edad con cambios clínicos e histopatológicos compatibles con lipodistrofia membranosa. Se hace también una breve revisión sobre aspectos clínicos, fisiopatológicos, histológicos y de tratamiento
Asunto(s)
Humanos , Masculino , Adulto , Biopsia , Dermatosis de la Pierna , Lipodistrofia/diagnóstico , Lipodistrofia/patologíaRESUMEN
La lipoatrofia semicircular fue descripta por Gschwandtner y Münzberger en 1974. Hasta el presente se han publicado 29 casos. Consiste en una banda atrófica horizontal, localizada generalmente en los muslos de mujeres jóvenes y debida a la atrofia del panículo adiposo. La etiología es desconocida pero los microtraumatismos repetidos explicarían muchos casos. Se presenta un caso en una mujer de 56 años, quien después de un largo viaje en ómnibus nóto la aparición de la lesión, culpando al uso de ligas. La histopatología mostraba focos de granulomas lipofágios, infiltrado perivascular de mononucleares y engrosamiento de las paredes de los capilares