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.

Linfangioleiomiomatosis pulmonar: Caso clínico / Pulmonary lymphangioleiomyomatosis: Report of one case

Lymphangioleiomyomatosis (LAM) is a rare interstitial lung disease, of unknown etiology, affecting almost exclusively women. Microscopically LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other diseases (sporadic LAM) or in conjunction with tuberous sclerosis complex (TSC). It presents with progressive breathlessness or with recurrent pneumothorax or chylothorax. We report a 33 year-old woman with a history of recurrent pneumothorax. Computed tomography (CT) scans showed numerous thin-walled cysts throughout the lungs, a characteristic finding in LAM. A pulmonary biopsy was compatible with the diagnosis and HMB-45 monoclonal antibodies were positive. Treatment with Sirolimus was started.

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

A rare cause of exertional dyspnoea and hemoptysis in a 30-year-old female.

A young female patient of 30 years of age previously asymptomatic presented with complaints of exertional dyspnoea and hemoptysis with a normal chest roentgenogram. She was eventually diagnosed to have lymphangioleiomyomatosis, a rare pulmonary disorder. In this patient it occurred without any history of current pregnancy or estrogen consumption, as a sporadic entity.

Lymphangiomyomatosis Arising in the Pelvic Cavity: A Case Report

Lymphangioleiomyomatosis (LAM) is a rare disease usually occurring in young women of child-bearing age. It is characterized by a distinctive proliferation of lymphatic smooth muscle cells, especially occurring in the pulmonary parenchyme. The majority of primary LAM occurs in the lung, but there are a few reports of extrapulmonary cases. We report a case of a 21-yr-old female who first complained of low abdominal pain and was referred from a local clinic with the impression of an ovarian cyst. Gynecologic ultrasonography revealed a large posterior pelvic mass with an irregular echogenicity measuring 9.7x4.2 cm in size. Pelviscopy showed a large, thin walled, partly cystic, pelvic mass. The mass was partly removed. Microscopically, the mass was characterized by a haphazard proliferation of smooth muscle cells arranged in fascicular, trabecular, and papillary patterns around a ramifying network of endothelium-lined spaces. The cells were plump or epithelioid with abundant eosinophilic cytoplasm and showed a positive reaction for both alpha-smooth muscle actin and HMB-45 antigen. Surgical and pathological findings were consistent with pelvic retroperitoneal LAM. Despite the numerous treatment attempts, the patient suffered from intractable chylous ascites and developed pulmonary LAM and died due to severe respiratory distress.

Pulmonary lymphangioleiomyomatosis: a rare presentation.

Pulmonary lymphangioleiomyomatosis (LAM) is a rare idiopathic, cystic disease. We report a case of LAM who presented with nonchylous, bilateral pleural effusion and progressive respiratory failure.

Lymphangioleiomyomatosis: a rare cause of breathlessness.

A 24-year-old female presented with complaints of cough with scanty expectoration, breathlessness on exertion and chest pain for the last three years. These symptoms had appeared during the 12th week of her third pregnancy. She was given anti-tuberculosis treatment at another hospital for nine months without any improvement in symptoms. Four years ago she had been diagnosed to have leprosy of borderline variety for which she had received treatment. On examination, she was tachypnoeic with a respiratory rate of 33 breaths per minute. She had clubbing and small, discrete and firm lymph nodes in the anterior cervical region. Chest examination revealed wheezing with bibasilar end-inspiratory crepitations.

Linfangioleiomiomatose em paciente infectada pelo HIV / Lymphangioleiomyomatosis in HIV-infected patient

Linfangioleiomiomatose (LAM) é uma doença rara, de etiologia desconhecida e que ocorre quase exclusivamente em mulheres em idade fértil. Os achados patológicos cardinais são a proliferação não-neoplásica de células imaturas de músculo liso e a formação de cistos pulmonares de paredes finas. Os autores descrevem um caso de LAM pulmonar e pneumotórax espontâneo bilateral em paciente com infecção pelo HIV

Complexo esclerose tuberosa, climaterio e terapia de reposicao hormonal: relato de caso / Tuberous sclerosis complex, climacteric and hormonal replacement therapy: case report

O complexo esclerose tuberosa (TSC) e uma doenca rara de manifestacao sistemica que...

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

Linfangioleiomiomatosis pulmonar: reporte de un caso

La linfangioleiomiomatosis es una enfermedad rara con menos de 250 casos reportados en la literatura universal, que ocurre únicamente en mujeres, usualmente en edad reproductiva y que se caracteriza por la proliferación de células de musculo liso en tejido pulmonar y en los vasos linfáticos. Presentamos el caso de una mujer de 29 años, con disnea progresiva, tos con escasa espectoración y neumotórax espontáneo bilateral. El diagnóstico se realizó mediante biopsia pulmonar a cielo abierto, donde se encontró proliferación de haces de músculo liso los cuales se disponían preferentemente alrededor de las estructuras vasculares,bronquiales y septo alveolares. Comentamos los principales hallazgos clínicos, radiológicos e histopatológicos.