Sarcoma de Kaposi tipo linfangiomatoso: comunicación de un caso / 9 LYMPHANGIOMATOUS KAPOSI'S SARCOMA: CASE REPORT

El sarcoma de Kaposi linfangiomatoso es una variante clínica rara del sarcoma de Kaposi. Tiene la característica de presentarse como cavidades con contenido líquido que muchas veces se confunden con enfermedades ampollares de la piel. Presentamos un paciente masculino con antecedente de infección por VIH asociado a sarcoma de Kaposi clásico, diseminado a nivel pulmonar, gastrointestinal y cutáneo. Tras dos ciclos de quimioterapia mejoró el compromiso sistémico, pero comenzó con ampollas en ambos muslos, por lo que junto con estudios clínicos y estudios complementarios se llegó al diagnóstico de sarcoma de Kaposi linfangiomatoso.

Lymphangiomatous Kaposi's sarcoma is a rare clinical variant of Kaposi's sarcoma. It has the characteristic of appearing as cavities with liquid content that are often confused with blistering skin diseases. We present a male patient with a history of HIV infection associated with classic Kaposi's sarcoma, disseminated to the pulmonary, gastrointestinal and skin levels. After two cycles of chemotherapy, the systemic involvement improved but she began with blisters on both thighs, from which, together with clinical studies and complementary studies, a diagnosis of lymphangiomatous Kaposi's sarcoma was reached.

Diagnostic performance of VEGF-D for lymphangioleiomyomatosis: a meta-analysis / Desempenho diagnóstico do VEGF-D para linfangioleiomiomatose: meta-análise

ABSTRACT Objective: VEGF-D is a potential biomarker for lymphangioleiomyomatosis (LAM); however, its diagnostic performance has yet to be systematically studied. Methods: We searched PubMed, EMBASE, Scopus, Web of Science, and Cochrane Library to identify primary studies on VEGF-D in relation to the diagnosis of LAM. The quality of the studies was evaluated using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2). Summary estimates of diagnostic accuracy were pooled using a bivariate random effects model. Subgroup and sensitivity analyses were performed to explore possible heterogeneity. The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) was applied to rate the quality of evidence and indicate the strength of recommendations. Results: Ten studies involving 945 patients were of high risk in quality, as assessed using the QUADAS-2. The pooled diagnostic parameters were indicated as follows: sensitivity = 0.82 (95% CI, 0.71-0.90); specificity = 0.98 (95% CI, 0.94-0.99); and diagnostic OR = 197 (95% CI, 66-587). The AUC of summary ROC analysis was 0.98. The subgroup and sensitivity analyses revealed that the overall performance was not substantially affected by the composition of the control group, prespecified cutoff value, the country of origin, or different cutoff values (p > 0.05 for all). A strong recommendation for serum VEGF-D determination to aid in the diagnosis of LAM was made according to the GRADE. Conclusions: VEGF-D seems to have great potential implications for the diagnosis of LAM in clinical practice due to its excellent specificity and suboptimal sensitivity.

RESUMO Objetivo: O VEGF-D é um potencial biomarcador para linfangioleiomiomatose (LAM); entretanto, seu desempenho diagnóstico ainda não foi sistematicamente estudado. Métodos: Foram realizadas buscas nos bancos de dados PubMed, EMBASE, Scopus, Web of Science e Cochrane Library para identificar estudos primários sobre o VEGF-D com relação ao diagnóstico de LAM. A qualidade dos estudos foi avaliada por meio da ferramenta Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2). As estimativas sumárias de acurácia diagnóstica foram combinadas utilizando um modelo bivariado de efeitos aleatórios. Análises de subgrupo e de sensibilidade foram realizadas para explorar possíveis heterogeneidades. O sistema Grading of Recommendations Assessment, Development, and Evaluation (GRADE) foi aplicado para avaliar a qualidade das evidências e indicar a força das recomendações. Resultados: Dez estudos envolvendo 945 pacientes eram de alto risco em qualidade, segundo a ferramenta QUADAS-2. Os parâmetros diagnósticos combinados foram indicados da seguinte forma: sensibilidade = 0,82 (IC95%: 0,71-0,90); especificidade = 0,98 (IC95%: 0,94-0,99); e OR diagnóstica = 197 (IC95%: 66-587). A ASC da análise summary ROC foi de 0,98. As análises de subgrupo e de sensibilidade revelaram que o desempenho global não foi substancialmente afetado pela composição do grupo controle, valor de corte pré-especificado, país de origem ou diferentes valores de corte (p > 0,05 para todos). Uma forte recomendação para a dosagem de VEGF-D sérico para auxiliar no diagnóstico de LAM foi feita de acordo com o sistema GRADE. Conclusões: O VEGF-D parece ter grandes implicações potenciais para o diagnóstico de LAM na prática clínica em virtude da excelente especificidade e sensibilidade subótima.

Linfangioleiomiomatosis pulmonar / Pulmonary lymphangioleiomyomatosis

Introducción: La linfangioleiomiomatosis pulmonar constituye un desafío, tanto en su manejo diagnóstico como en la atención de sus complicaciones. Es una enfermedad rara que se caracteriza por la proliferación del músculo liso alrededor de las estructuras bronco-vasculares, linfáticos y en el intersticio pulmonar, unido a la dilatación quística de los espacios aéreos terminales. Objetivo: Describir la evolución clínica y el tratamiento de un paciente con linfangioleiomiomatosis pulmonar. Presentación de caso: Se presenta un caso de linfangioleiomiomatosis pulmonar que desde el punto de vista clínico se manifestó por neumotórax a repetición. Se llegó a diagnóstico definitivo mediante la realización de una biopsia de pulmón. Desarrollo: La linfangioleiomiomatosis es una entidad rara que afecta fundamentalmente a mujeres en edad fértil y que se caracteriza por la presencia de un patrón quístico difuso. Su prevalencia e incidencia es desconocida. Conclusiones: Se puede concluir que la presencia de neumotórax espontáneo o recidivante en una mujer en edad fértil, o embarazada, debe sospecharse linfangioleiomiomatosis(AU)

Introduction: Pulmonary lymphangioleiomyomatosis constitutes a challenge, both in its diagnostic management and in the care of complications. It is a rare disease characterized by the proliferation of smooth muscle around the bronchovascular and lymphatic structures and in the pulmonary interstitium, together with cystic dilation of the terminal air spaces. Objective: To describe a diagnosed case of pulmonary lymphangioleiomyomatosis. Case report: A case of pulmonary lymphangioleiomyomatosis is reported, which was clinically showed as recurrent pneumothorax. A definitive diagnosis was reached by performing a lung biopsy. Discussion: Lymphangioleiomyomatosis is a rare entity that mainly affects women of childbearing age and is characterized by the presence of a diffuse cystic pattern. Its prevalence and incidence is unknown. Conclusions: It can be concluded that the presence of spontaneous or recurrent pneumothorax in a woman of childbearing age, or pregnant, should be suspected lymphangioleiomyomatosis(AU)

Linfangioleiomiomatosis pulmonar, una rara enfermedad pulmonar: presentación de un caso clínico / Pulmonary lymphangioleiomyomatosis, a rare lung disease: presentation of a clinical case

Introducción: La linfangioleiomiomatosis Pulmonar (LAM) es una rara y progresiva enfermedad; caracterizada por proliferación excesiva de células musculares lisas a partir de vasos linfáticos, sanguíneos y vías aéreas. En conjunto al anormal crecimiento celular descrito, se aprecia degeneración quística difusa del parénquima pulmonar, lo que puede reflejarse desde cuadros completamente asintomáticos hasta el deterioro severo del intercambio gaseoso con insuficiencia respiratoria fulminante. Descripción del caso: Paciente femenino de 41 años de edad, con cuadro clínico consistente en tos seca ocasional, asociada a dolor leve de características pleuríticas en 'puntada de costado ' derecha. Ante la no mejoría clínica, se indica estudio imagenológico donde se demuestra neumotorax espontáneo derecho. En estudio tomográfico se aprecian además lesiones pulmonares quísticas. El estudio anátomo-patológico demuestra cambios estructurales que se reportan compatibles con LAM. Conclusión: Dada la simplicidad de los síntomas con que la LAM puede debutar, su confirmación diagnóstica se genera en fases avanzadas de la enfermedad, cuando el daño pulmonar importante conlleva a la aparición de factores clínicos con mayor repercusión sobre el estado general de los pacientes por lo que la realización de estudios imagenológicos tempranos gana vital importancia.

Introduction: Pulmonary lymphangioleiomyomatosis (LAM) is a rare and progressive disease; characterized by airway, lymphatic and blood vessels-smooth muscle cells excessive proliferation. Added to the abnormal cell growth, parenchymal cystic degeneration is present, which can be reflected initially as a asymptomatic course and can progress to severe gaseous exchange deterioration and fulminating respiratory insufficiency. Case description: A 41-year-old female patient with a clinical course consisting of occasional dry cough, associated with mild pleuritic pain on the right side of thorax. As no improvement was achieved, thoracic imaging study was performed, where a right pneumothorax was found. Tomography images showed multiple lung cystic lesions. Anatomopathological study reports structural changes compatible with LAM. Conclusion: Given the simplicity of the symptoms that LAM can debut with, its diagnostic confirmation is generated in advanced stages of the disease, when the important pulmonary damage leads to the appearance of clinical factors with greater impact on the general state of patients so early thoracic imaging studies gain vital importance.

Lymphangioleiomyomatosis - Retroperitoneum.

Lymphangioleiomyomatosis (LAM) is a progressive disease affecting women of childbearing age. It is microscopically characterized by abnormal smooth muscle proliferation in the walls of lymphatics and lymph nodes. A 52-year old female presented with pain in left leg and bilateral pedal oedema. USG and CT abdomen revealed a retroperitoneal cystic mass suspicious of malignancy. Retroperitoneal exploration was done and the mass was excised which revealed milky contents within. On gross examination of the specimen, a spongy mass was noted . Histopathological examination led to a diagnosis of lymphangioleiomyomatosis. LAM is a rare disease unfamiliar to many physicians and may pose a diagnostic dilemma to the physician, possibly resulting in delayed or missed diagnosis . Many treatment modalities including corticosteroids, cytotoxic drugs, chemotherapy, radiation and hormonal therapy are suggested. The prognosis of LAM varies with the individual, but many patients respond well to intramuscular medroxyprogesterone injections.

Linfangioleiomiomatose: relato de caso / Lymphangioleiomyomatosis: case report

A Linfangioleiomiomatose (LAM) é uma doença sistêmica rara, de etiologia desconhecida, que afeta quase exclusivamente mulheres em idade reprodutiva. Caracterizada pela proliferação atípica de células musculares lisas em diversos órgãos, especialmente pulmão, que leva ao desenvolvimento de um distúrbio ventilatório obstrutivo, de caráter progressivo, com hiperinsuflação pulmonar e diminuição da difusão de monóxido de carbono, devido aos inúmeros cistos que formados no parênquima pulmonar. A manifestação clínica mais comumé o pneumotórax. O fator hormonal tem sido exposto como coadjuvante no desenvolvimento da doença, já que esta atinge quase que exclusivamente indivíduos do sexo feminino e se intensifica durante a gestação. Pesquisas recentes verificaram ao corrência de mutações genéticas e presença de lesões que estão associadas à doença Esclerose Tuberosa; porém, há necessidadede mais estudos para afirmar essa correlação. O presente relatorefere-se a paciente do sexo feminino, 45 anos de idade, brasileira,leucoderma, com diagnóstico de Linfangioleiomiomatose que compareceu ao ambulatório de Odontologia do Instituto do Coração do Hospital das Clínicas (FMUSP), encaminhada pelo Departamento de Pneumologia, para avaliação odontológica pré-operatória de transplante pulmonar. Paciente contactuante,com dispneia e uso contínuo de cateter de oxigênio, apresentando em cadeira de rodas para mínimo esforço físico. Higiene oral insatisfatória evidenciada pela presença de tártaro, raiz residual inaproveitável e lesões cariosas. Sabe-se que a infecção está entre as maiores causas de perda do órgão recebido pelo transplantado e, por isso, a atuação do cirurgião-dentista é de suma importância para prevenir quadros sistêmicos infecciosos decorrentes de focos bucais, pré e pós-transplante.

The Lymphangioleiomyomatosis (LAM) is a rare systemic disease of unknown etiology that affects mainly women atreproductive age. Characterized by an atypical proliferation of smooth muscle cells in various organs, especially in thelungs, which leads to the development of obstructive lung disease, a progressive character, with hyperinflation anddecreased lung diffusion of carbon monoxide due to the numerous cysts that are formed in the lung parenchyma.The most common clinical manifestation is pneumothorax. The hormonal factor has been exposed as an adjuvant in thedevelopment of the disease since it affects almost exclusively women and intensifies during pregnancy. Recent researches verified the occurrence of mutations and genetic lesions thatare associated with the disease Tuberous Sclerosis, but further studies are necessary in order to affirm this correlation. This report refers to a female patient, 45 years of age, Brazilian, leukoderma, diagnosed with Lymphangioleiomyomatosis who attended the outpatient clinic of Dentistry from the Heart Institute, Hospital das Clínicas (FMUSP) forwarded by the Department of Pulmonology, for a lung transplantpreoperative dental evaluation. Patient with dyspnea and continuous use of oxygen catheter, performing in a wheelchair for minimal physical effort. Poor oral hygiene evidenced by the presence of tartar, root caries and residual unusable. It is known that infection is among the biggest causes of loss of the transplanted organ by the receiver and, therefore, the role of the dentist is very important to prevent systemic frameworks infectious foci resulting from oral pre-andpost-transplant.

CT and MR Imaging Findings of Lymphangioleiomyomatosis Involving the Uterus and Pelvic Cavity

Lymphangioleiomyomatosis (LAM) is a rare idiopathic disease and this is characterized by a proliferation of abnormal smooth muscle cells in the lungs and in the lymphatic system of the thorax and retroperitoneum. The female genital tract is rarely affected by LAM. We report here on the CT and MR imaging findings of extensive LAM involving the uterus and pelvic cavity, and this was seen as multiple cystic uterine and parauterine masses with internal hemorrhage in a young female with tuberous sclerosis complex.

Doenças pulmonares interticiais: linfangioliomiomatose em questão / Intertitial pulmonary diseases: lymphangioleiomyomatosis in question

As doenças pulmonares intersticiais (DPIs) são conceituadas como distúrbios que acometem o parênquima pulmonar - o endotélio cailar, os alvéolos, o epitélio alveolar e os espaços entreestas estruturas, bem como os tecidos perivasculares e linfáticos - , podendo ser classificadas segundo critérios histopatológicos, distinguindo-se dois grandes grupos: 1. das associadas à inflamação e fibrose; e 2. daquelas com reação granulomatosa predominante na área intersticial u vasculas. A linfangioliomiomatose (LAM) é uma rara DPI, idiópática, e com altas taxas de morbimortalidade, sendo caracterizada por uma multiplicação acelerada de células musculares lisas imaturas em qualquer estrutura pulmonar. No presente artigo apresentar-se-á uma revisão da literatura enfocando a etiopatogenia, a epidemiologia, o quadro clínico, o diagnóstico - procedimentos, critérios e diagnóstico diferencial - o tratamento e o prognóstico da LAM.

The interstitial pulmonary diseases (IPDs) are a range of disorders that affect the pulmonary parenchyma - the capillary endothelium, alveoli, alveolar epithelium and the spaces between thesestructures, as well as the perivascular and lymphatic tissues. The IPDs may be classified according to histopathologic criteria, and are divided into two large groups: 1. those associated with inflammation and fibrosis; and 2. those associated with granulomatous reactions predominantly in the interstitial or vascular area. Lymphangioleiomyomatosis (LAM) ia a rare, idiopathic IPD with high morbimortality rates, which is characterized by an accelerated multiplication of immature smooth muscle cellsin any pulmonary structure. In this article, we present a review of the literature onthe etiopathogenesis, epidemiology, clinical picture, diagnosis and differential diagnosos, treatment, and prognosis of this condition.

A Case Report with Lymphangiomatosis of the Colon

The incidence of lymphangiomas in the gastrointestinal tract is low, particularly in the colon and rectum, and most cases are solitary. Lymphangiomatosis of the colon are encountered infrequently with only one report in the English literature, and polypectomy was performed for the diagnosis in that case report. However, trends in the diagnosis of lymphangiomatosis of colon have been changing since the development of endoscopic ultrasonography (EUS), and this case is the first in that lymphangiomatosis of the colon was diagnosed without invasive procedures. Here we describe the case of 31-yr-old woman with lymphangiomatosis of the colon with numerous polyposis-like appearing lesions diagnosed by endoscopic ultrasonography and a colonoscopy.

A Nationwide Survey of Lymphangioleiomyomatosis in Korea: Recent Increase in Newly Diagnosed Patients

In 2007, the Korean Interstitial Lung Disease Society had collected clinical data of patients who have diagnosed as Lymphangioleiomyomatosis (LAM) since 1990 through nationwide survey, which showed that LAM patients had increased sharply after 2004. The present study was performed to show the clinical features of Korean patients with LAM, and to establish the reason for the recent increase in the diagnosis. All 63 patients were women and the mean age at diagnosis was 36 yr. The most common presenting symptom was dyspnea and 8 patients had tuberous sclerosis complex. The survival rate at 5 yr after diagnosis was 84%. Compared with patients diagnosed after 2004 (n=34), the patients diagnosed before 2004 (n=29) complained with dyspnea more (P=0.016) and had lower FEV1% predicted (P=0.003), and DLco% predicted (P=0.042). The higher proportion of patients diagnosed after 2004 showed the normal chest radiography, and they were detected by routine chest CT screening (P=0.016). This study showed that clinical features of Korean patients with LAM were not different from those reported elsewhere. It is concluded that the reason for the increase of newly diagnosed patients is the result of increase in detection of the early stage LAM by the widespread use of chest CT screening.

Linfangiomatose pulmonar: relato de dois casos / Pulmonary lymphangiomatosis: a report of two cases

A linfangiomatose, doença rara e de origem controversa, ocorre em indivíduos de todas as faixas etárias, predominando entre os mais jovens, sem predileção por sexo. Comumente cursa com envolvimento torácico, porém órgãos como ossos, baço e fígado podem ser acometidos. Histologicamente, o envolvimento pulmonar cursa com proliferação, anastomoses complexas e dilatação secundária do sistema linfático. Clinicamente, a apresentação é variável. Os achados radiográficos podem ser sugestivos e o diagnóstico é definido pela histologia. Relatamos dois casos da doença; uma das pacientes era oligossintomática e encontra-se em tratamento; na outra, a doença foi mais agressiva e o diagnóstico muito tardio, culminando em óbito.

Lymphangiomatosis, a rare diseases of controversial origin, occurs in individuals of any age, regardless of gender, but is predominantly seen in younger individuals. It often presents with thoracic involvement, although, the bones, spleen and liver can also be affected. Histologically, the pulmonar involvement includes proliferation, complex anastomoses and secondary dilatation of the lymphatic vessels. Clinically, the presentation is variable. Although radiographic findings can be suggestive of the disease, the final diagnosis is made histologically. We report two cases of lymphangiomatosis, both in females: one was oligosymptomatic and is being treated for the disease; the other had a more progressive form, was diagnosed quite late and ultimately died of the disease.

Esclerosis tuberosa: a propósito de un caso con compromiso multisistémico y evolución fatal / Tuberous sclerosis: case report with multisystemic involvement and fatal outcome

Presentamos una paciente de 45 años, con lesiones cutaneas características de esclerosis tuberosa: maculas hipopigmentadas en el tronco, angiofibromas solitarios en la cara, un angiofibroma en placa en la frente y un nevo conectivo en la espalda. También presenta compromiso neurológico: epilepsia, calcificaciones periventriculares y nódulos subependimarios sin déficit cognitivo, compromiso pulmonar: linfangiomiomatosis, alteraciones oftalmológicas: hamartomas retinianos, y manifestaciones renales: angiomiolipomas y quistes renales múltiples. Destacamos el importante compromiso multisistémico de este caso y la rareza de la linfangiomiomatosis, motivo por el cual el pronóstico de la enfermedad empeora. A pesar de ello, y en contra de lo esperado, la paciente sobrevive hasta los 45 años y finalmente fallece por complicaciones propias de su patología de base

Pregnancy unmasking lymphangioleiomyomatosis.

A 30 year-old housewife presented with cough and shortness of breath which progressed during her ensuing pregnancy, culminating in a still-birth at 9 months of gestation and requiring her hospitalisation in the immediate postpartum period. HRCT scan of the thorax showed thin-walled cysts and open lung biopsy confirmed the clinical impression of lymphangioleiomyomatosis. She was put on oral medroxyprogesterone acetate. After disease flare-up in the postpartum period her symptoms have stabilised.

A case of pulmonary lymphangioleiomyomatosis

A case of pulmonary lymphangioleiomyomatosis (PLAM) occurring in a 48-year-old Jamaican female is presented. The clinical, radiological, and pathological findings are typical of this rare condition, and serve to emphasize the need for a high index of suspicion in order to make the diagnosis and commence therapy early in the course of the disease. The outlook for patients with PLAM continues to be poor

Hemoptisis masiva en embarazadas: una presentación infrecuente de la linfangioleiomiomatosis / Massive hemoptysis in pregnancy: an infrequent presentation of lymphangioleiomyomatosis

Se presenta el caso de una paciente de 36 años, que ingresa al hospital cursando un embarazo fisiológico de 32 semanas, por cuadro hemoptisis masivas (> 700 ml/24 horas) asociadas a disnea, con leve inestabilidad hemodinámica. La fibrobroncoscopía mostró sangrando proveniente del segmento posterior del lóbulo superior derecho, sin daño endoluminal. La radiografía de tórax, tomografía y angiografía bronquial fueron normales. La paciente persistió con sangramiento como fue confirmado en una segunda broncospía por lo que optó por la resolución quirúrgica efectuándose una lobectomía superior derecha. El análisis histopatológico de la pieza concluyó el diagnóstico de Linfagioleiomiomatosis (LAM) y el estudio para receptores de estrógenos fue positivo en el tejido analizado. La LAM es una entidad rara de origen desconocido que afecta sólo a mujeres, especialmente en edad fértil, caracterizada por proliferación del músculo lisi a nivel peribronquial, perivascular y perilifática que conduce a la formación de lesiones quísticas, neumotórax recurrente, hemoptisis y quilotórax. La historia natural de la LAM es hacia la progresiva obstrucción al flujo aéreo, que conduce la falla respiratoria progresiva en un plazo impredecible. Las series más recientes comunican una sobrevida a 8-10 años de 79 por ciento. La hipótesis de la dependencia hormonal y efectividad de terapias tales como ooforectomía y progesterona no han sido demostradas en forma sólida, sin embargo, en la actualidad son las alternativas disponibles previo a la decisión de transplante pulmonar