Dermolipectomía por lipodistrofia abdominal grave en obesidad mórbida / Dermolipectomy for severe abdominal lipodystrophy in morbid obesity

RESUMEN La obesidad y el sobrepeso se definen como una acumulación anormal o excesiva de grasa que puede ser perjudicial para la salud. Es una enfermedad crónica de origen multifactorial, que como consecuencia ocasiona problemas higiénicos, discapacidad funcional y alteración de la calidad de vida. La dermolipectomía abdominal es una técnica quirúrgica que constituye la única opción para el tratamiento de pacientes con panículo adiposo prominente; de esa forma se logra disminuir las complicaciones y se reintegra socialmente al paciente que, a causa del enorme faldón abdominal, estuvo limitado por muchos años. Presentamos el caso de una paciente de 53 años con lipodistrofia abdominal grave, que llegaba a ambos tobillos con afectación cutánea, y discapacidad para realizar actividades diarias, resuelta con dermolipectomía abdominal y resección de 29 kg de tejido dermograso. Se realizará, además, una revisión bibliográfica del tema.

ABSTRACT Overweight and obesity are defined as abnormal or excessive fat accumulation that presents a risk to health. It is a chronic disease caused by multiple factors, which results in hygienic issues, functional disability and impaired quality of life. Abdominal dermolipectomy is the only surgical option for the treatment of patients with prominent panniculus morbidus, thus reducing complications and providing social reintegration for the patient who has been limited for many years due to the enormous abdominal panniculus. We report the case of a 53-year-old female patient with severe abdominal lipodystrophy with coverage of both ankles, skin involvement, and disability to perform daily activities, that was managed with abdominal dermolipectomy and resection of 29 kg of dermo-adipose tissue. Bibliographic research is also presented.

Targeted massively parallel sequencing for congenital generalized lipodystrophy

ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed. Results: An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in AGPAT2 and three in BSCL2. Three large homozygous deletions in AGPAT2 were identified by copy-number variant analysis. Conclusions: Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.

Lipodistrofias primarias: presentación clínica y diagnóstico / Clinical presentation and treatment of primary lipodystrophies

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.

Hemangioma de crecimiento mínimo o detenido con lipoatrofia: presentación de un caso clínico / Hemangioma with minimal or arrested growth

Los hemangiomas de la infancia (HI) son tumo-res vasculares que presentan un patrón evolutivo característico. Existe un subgrupo de HI que pre-senta un tipo de crecimiento distinto denominados hemangiomas de la infancia con crecimiento míni-mo o detenido (HI-CMD). En estos, el componen-te proliferativo no supera el 25% de la superficie total; además, afecta a niños de al menos dos meses de edad en la consulta inicial o a niños menores de dicha edad en los que se realiza un seguimiento mayor a 2 meses. Los HI- CMD con lipoatrofia son una variante poco frecuente de HI de la cual exis-ten escasos reportes en la literatura. El objetivo de nuestro trabajo es presentar un caso de HI-CMD con lipoatrofia en una lactante. Los HI-CMD presentan un desafío diagnóstico ya que deben ser reconocidos precozmente y diferencia-dos de otras lesiones vasculares.

Infantile hemangiomas (IH) are vascular tumors that present a characteristic evolutive pattern. There is a subgroup of hemangiomas that pre-sents a different type of growth called infantile hemangiomas with minimal or arrested growth (IH-MAG). In these, the proliferative component does not exceed 25% of the total surface; it also affects children of at least two months of age in the initial consultation or children under that age in which a follow-up of more than 2 months is carried out. IH-MAG with lipoatrophy is a rare variant of IH of which there are few reports in the literature.The aim of our report is to present a case of IH-MAG with lipoatrophy in an infant. IH-MAGs present a diagnostic challenge since they must be recognized early, and differentiated from other vascular lesions.

Prevalencia de factores de riesgo de enfermedad cardiovascular en niños y adolescentes con infección por HIV / Prevalence of risk factors for cardiovascular disease in HIV-infected children and adolescents

Introducción: La exposición prolongada a las drogas en el tratamiento antirretroviral de alta eficacia (HAART) cambió el pronóstico de la enfermedad pero puede generar alteraciones metabólicas y lipodistrofia que aumentan el riesgo de enfermedad cardiovascular precoz (ECVP). En la población pediátrica infectada con HIV los estudios son escasos y las medidas para disminuir el riesgo de ECVP no han sido definidas. Objetivo: investigar la prevalencia de factores de riesgo de ECVP en niños y adolescentes con infección crónica por HIV en un hospital pediátrico de alta complejidad. Material y Métodos: estudio descriptivo, prospectivo, controlado, de corte transversal. Se incluyeron niños con infección vertical por HIV, edad entre 2 y 18 años estratificados según esquema de tratamiento antirretroviral recibido (con y sin Inhibidores de la Proteasa-IP-) y controles seronegativos. Se realizó antropometría, impedanciometría bioeléctrica (BIA)y ecodoppler carotídeo. Se dosó glucemia basal, insulina basal, perfil lipídico, TGO, TGP, recuento de leucocitos y plaquetas, linfocitos TCD4+ y TCD8+, carga viral, proteína C Reactiva cuantitativa de alta sensibilidad. Se consideraron pacientes con riesgo de ECVP a los que presentaron: obesidad, hipertensión arterial, intolerancia a la glucosa/ diabetes, resistencia a la insulina, dislipemia, aumento de proteína C reactiva (PCR) o aumento del grosor arterial. Resultados: Ambos grupos HIV+ presentaron un escore Z para peso, talla y BMI significativamente menor que el grupo control., mientras que la frecuencia de aparición del índice Cintura/Talla con valores patológicos fue significativamente mayor en el grupo HIV+. Utilizando el método clínico de Carr el 18% de los pacientes HIV+ presentaba lipodistrofia, la mayoría de los cuales tenían hipertrigliceridemia. El grupo HIV+ presento un% de masa grasa (MG) mayor y un% de masa libre de grasa (MLG) y masa celular menor que el grupo control medido por BIA. Se constató alta prevalencia de dislipidemia en el grupo HIV+ con niveles medios más altos de Colesterol total, c-LDL, y TG que el grupo control, que fue significativamente mayor en los pacientes expuestos a IP con valores más elevados de colesterol total y c-LDL y mayor frecuencia de alteración del índice CT/HDL y significativamente mayor en el grupo expuesto a IP. No se encontraron diferencias de los niveles medios de glucemia en ayunas, insulina basal ni resistencia a la insulina evaluada por HOMA. En el subgrupo HIV+ estudiado se observó un aumento del espesor de la íntima media carotidea. Conclusión: En un grupo de niños y adolescentes infectados verticalmente por HIV bajo TARV de alta eficacia el peso, talla,% de MLG y MC fue significativamente menor y el% de MG mayor que el grupo control. La alta prevalencia de dislipidemia encontrada en el grupo HIV+, particularmente en aquellos expuestos a IP y el indice Cintura/Talla constituyen factores que aumentarían el riesgo de desarrollar enfermedad cardiovascular precoz (AU)

Introduction: Long-term drug exposure using highly active antirretroviral therapy (HAART) has changed disease prognosis in HIV-infected patients, but may cause metabolic alterations and lipodystrophy increasing the risk of early cardiovascular disease (ECVD). Studies in the population of HIV-infected children are scarce and measures to reduce the risk of ECVD have not been defined. Aim: To investigate the prevalence of risk factors for ECVD in children and adolescents with a chronic HIV-infection in a tertiary pediatric. Material and Methods: A descriptive, prospective, controlled cross-sectional study was conducted. Children with a mother-to-child HIV infection between 2 and 18 years of age, stratified according to HAART regimen received (with or without protease inhibitors (PI)) and seronegative controls were included. Anthropometry, bioelectrical impedance analysis (BIA), and carotid ultrasonography were performed. Baseline glycemia and insulin, lipid profile, ALT, AST, leukocyte and platelet counts, TCD4+ and TCD8+ lymphocytes, viral load, and high-sensitivity quantitative C-reactive protein (CRP) were measured. Patients were considered at high risk for ECVD when they had: obesity, arterial hypertension, glucose intolerance/diabetes, insulin resistance, dyslipidemia, increased CRP, or increased intima-media thickness. Results: Both HIV+ groups presented with significantly lower Z-scores for weight, height, and BMI than the control group, while the prevalence of pathological measures of waist-to-height index was significantly higher in the HIV+ group. Using the clinical method of Carr, 18% of the HIV+ patients presented with lipodistrophy, the majority of whom had hypertriglyceridemia. The HIV+ group had a higher percentage of fat mass (FM) and a lower percentage of fat-free mass (FFM) and cell mass (CM) than the control group measured by BIA. A high prevalence of dyslipidemia was found in the HIV+ group with higher mean total cholesterol, LDLcholesterol, and TG levels than in the control group. This prevalence was significantly higher in patients receiving PI, with increased levels of total cholesterol and LDL-cholesterol and a higher rate of alteration of the total cholesterol/HDL ratio. No differences were found in mean fasting glycemia, baseline insulin, or insulin resistance levels assessed using HOMA. In the HIV+ PI subgroup, increased carotid intima-media thickness was observed. Conclusion: In a group of vertically HIV-infected children on HAART, weight, height, percentage of FFM and CM were significantly lower and percentage of FM was significantly higher than in the control group. The high prevalence of dyslipidemia found in the HIV+ group, particularly in those exposed to PI, as well as the higher waist-to-height index increase the risk of developing ECVD (AU)

Lipoatrofia semicircular, una visión general a una patología laboral emergente en Chile / Semicircular lipatrophy, an overview of emerging labor pathology in Chile

La Lipoatrofia Semicircular (LS) es una enfermedad idiopática, que se caracteriza por una atrofia reversible y localizada, ya sea total o parcial, del tejido adiposo subcutáneo y que se ubica en zonas de contacto de la piel de las extremidades con el inmobiliario. Se caracteriza por presentarse en brotes endémicos, cuyo único factor en común es el lugar de trabajo. Sus causas son desconocidas, pero en la actualidad se proponen factores asociados como: el contacto de la zona afectada con inmobiliario, presencia de radiación electromagnética, presencia de descargas electroestáticas y humedad ambiental relativa baja. Un modelo actual para explicar la patogenia de esta enfermedad involucra la participación de descargas electrostáticas, que probablemente activarían la liberación de factor de necrosis tumoral a (TNF-a) y desencadenaría la fagocitosis de adipocitos. Actualmente no tiene un tratamiento médico, siendo las medidas preventivas de mitigación de los factores previamente mencionados las que producen una reversión de la lesión. Por otro lado, la presencia de estos brotes generan un gran impacto mediático por lo que también debe ser abordada comunicacionalmente. La presente revisión pretende sintetizar la literatura sobre el tema para exponer el conocimiento actual y lograr una noción de esta nueva enfermedad, tras su primera presentación en brote en nuestro país.

Lipoatrophia semicircularis (LS) (also known as "Semicircular lipoa-trophy") is an idiopathic disease, which is characterized by a reversible and localized atrophy, either total or partial, of subcutaneous adipose tissue and located in areas of skin contact with the real estate tips. It is characterized by appearing in endemic outbreaks whose only common factor is the workplace. Its causes are unknown, but currently associated factors have been proposed, such as: the contact area with the office furniture, the presence of electromagnetic radiation, electrostatic discharge and presence of low relative humidity. A current model to explain the pathogenesis of this disease involves the participation of electrostatic discharges, which probably activate the release of tumor necrosis factor a (TNF-a) and it would trigger phagocytosis of adipocytes. Currently there is no medical treatment, being proactive mitigation measures of the before mentioned factors, those that produce a reversion of the injury. On the other hand, the presence of these buds generates great media impact so it must be also addressed from a communication standpoint. The present review aims to summarize the literature on the subject to present current knowledge and achieve a notion of this new disease, after its first appearance in outbreak in our country.

Você conhece esta síndrome? / Do you know this syndrome?

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.

Lipodystrophy in pediatric HIV.

OBJECTIVE: To assess fat accumulation in children with HIV/AIDS on long term HAART using CDC defined Body mass Index (BMI) criteria and measured Bioelectric Impedance (BI). METHODS: Prospective study of 48 HIV infected children (ages 6-15 years) on HAART to determine the incidence of lipodystrophy and evaluate methods of determining body fat accumulation. Lipodystrophy was diagnosed using clinical features-truncal obesity with facial/limb wasting. BMI (weight in kg/height in meters2) was plotted on CDC curves to predict the risk of obesity. BI was performed using Omron's HBF301 body fat analyzer and reported as TBF %/height. Serum cholesterol and triglycerides were measured. Results were compared using ANOVA RESULTS: Average duration of HAART was 2.4 years. Forty five of 48 patients were on protease inhibitors. Fifteen (31%) developed Lipodystrophy, but CDC BMI curves identify only 7/15 as overweight or at risk for obesity. However, TBF/Ht of 30% (using BI) was 85% sensitive and 88% specific in identifying Lipodystrophy. Hyperlipidemia occurred in 28/48 (58%) overall, in 14/15 (93%) diagnosed with lipodystrophy. CONCLUSION: Lipodystrophy is a significant problem in children with HIV/AIDS on HAART. BI is more useful than BMI in identifying patients with abnormal fat accumulation and should be incorporated in their routine assessment in the ambulatory setting.

Alteraçõs cardiovasculares e metabólicas da lipodistrofia generalizada congênita (Síndrome de Seip-Berardinelli / Cardiovascular and metabolic aspects of congenital generalized lipodystrophy (Seip-Berardinelli Syndrome)

A lipodistrofia é uma doença bem pouco estudada pela comunidade médica nacional e internacional. O surgimento de lesões do tipo de lipodistrofia adquirida associada ao uso de terapia retroviral nos portadores de HIV tem despertado maior interesse pela investigação nesta área. O objetivo deste artigo de atualização é descrever os aspectos cardiovasculares que acometem uma classe de pacientes portadores da forma de lipodistrofia generalizada congenita (LGC) também denominada de sindrome de Seip-Berardinelli. Inicialmente serão enfatizados os tipos conhecidos de lipodistrofias para, que em seguida, ser apresentado os relatos de casos encontrados na literatura, desde 1885 ate os dias atuais. As anormalidades cardiovasculares nos portadores desta sindrome são frequentes, sendo observada a presença de hipertensão arterial sistêmica, hipertrofia ventricular esquerda, cardiomiopatia hipertrófica e cardiomiopatia dilatada. Diabetes mellitus, hiperglicemia e hipertrigliceridemia também são ferquentes.

Envolvimento cardíaco na lipodistrofia total generalizada (síndrome de Berardinelli-Seip) / Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)

Total generalized lipodystrophy (Berardinelli--Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli--Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.

Lipodistrofia membranosa. Comunicación de un caso / Membranous lipodystrophy. Case report

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

Lipodistrofia membranosa do osso (doença de Nasu-Hakola): caso clínico / Membranous lipodystrophy of the bone (Nasu-Hakola disease): a clinical case

Os autores descrevem um caso de lipodistrofia membranosa em doença de Nasu-Hakola que foi confundida com outra patologia durante 12 anos. Trata-se de entidade muito rara, em que há comprometimento simétrico de várias regiöes do esqueleto, que enseja inúmeras fraturas patológicas. O quadro evolui para graves transtornos psiquiátricos e neurológicos que predispöem inexoravelmente à morte na meia idade

Síndrome de Madelung - relato de um caso e revisäo de literatura / Madlung's syndrome - case report and literatura review

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

Sindrome de Lipodistrofia Congénita Generalizada / Congenital generalized lipodystrophy syndrome

El actual estudio trata sobre la forma de presentación y evolución de los pacientes con lipodistrofia congénita generalizada o el Síndrome de Seip-Berardinelli. Se caracteriza por la ausencia de tejido graso subcutáneo, cirrosis hepática, desarrollo de diabetes resistente a la insulina, hiperlipemia, y crecimiento corporal rápido con edad ósea avanzada en la infancia, coexistiendo alteraciones cutáneas, desarrollo muscular exagerado y compromiso de otros órganos. Se presentan 3 casos de esta patología diagnosticados entre 9 y 19 meses de edad. Las 3 pacientes presentaban varias características en común: aparentaban una edad mayor a la cronlógica, cara triangular, abundante cabello, lesiones hiperpigmentadas a predominio de pliegues, marcada disminución de tejido celular subcutáneo, prominencia muscular y hepatomegalia. Otros hallazgos clínicos sólo se demostraron en una u otra de las pacientes. La evaluación de laboratorio muestra alteración precoz de lípidos a predominio de triglicéridos, conservando la glicemia y la curva de tolerancia a la glucosa dentro de límites normales. Edad ósea avanzada en 1 de los 3 casos. Analizando los datos de las pacientes y de la literatura respecto a la fisiopatología y posibles efectos beneficiosos de los neurolépticos, se sugiere existencia de alguna anomalía a nivel del hipotálamo y/o hipófisis responsable de la presentacióm del cuadro clínico.