Lymphangioleiomyomatosis and multifocal micronodular pneumocyte hyperplasia in Japanese patients with tuberous sclerosis complex.

Background: Pulmonary involvement in tuberous sclerosis complex (TSC) includes lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH). This retrospective study investigated pulmonary involvement in Japanese TSC patients and pulmonary function testing in TSC-LAM.

Methods: The study subjects included 59 TSC patients (age range: 13-66, 15 males and 44 females).

Multiple cystic lung disease.

Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy.

[Lymphangiomatosis and Gorham-Stout disease].

Lymphangiomatosis (recently renamed "generalized lymphatic anomaly") is a rare disease of unknown etiology that features an increase in the number of lymphatic vessels in many different tissues. Gorham-Stout disease(GSD) is a related disease characterized by lymphatic vessels involving the bones and resulting in progressive bone destruction. Respective definitions remain unclear because these conditions largely overlap in the clinical setting and are both associated with pleural effusion and other visceral lesions.

Malignant presentation of uterine lymphangioleiomyomatosis.

Objective: The main aim of this case report was to present the method of diagnosis, management, and the 12-year-follow-up of a patient diagnosed with primary uterine lymphangioleiomyomatosis (LAM).

Case Report: A 47-year-old woman was admitted to the Department of Thoracosurgery due to pulmonary lesions suspected to be metastatic. The potential primary site of the neoplasm was not identified by previous imaging studies and specialist counseling.

Lymphangioleiomyomatosis Presenting with Perirenal Hemorrhage.

Lymphangioleiomyomatosis (LAM) is a rare debilitating disease of unknown etiology, classically described as almost exclusively affecting women of childbearing age. The disease most commonly involves the lungs and is characterized by hamartomatous smooth muscle cell proliferations along blood vessels, airways and lymphatics. Most patients present with pulmonary symptoms, including shortness of breath, recurrent pneumothorax and pleural effusions.

A case of chylothorax in a patient with sarcoidosis: a rare and potentially fatal complication.

Obstruction of the thoracic duct may lead to accumulation of a lymphatic fluid rich in triglycerides named chyle. When chyle accumulates in the pleural cavity, it becomes a chylothorax. Malignancy, particularly lymphoma, is the most common cause of chylothorax; however, any pathology leading to obstruction or destruction of the thoracic duct can lead to a chylothorax.

Mayo clinic experience of lung transplantation in pulmonary lymphangioleiomyomatosis.

Objectives: Lymphangioleiomyomatosis (LAM) is a rare, cystic lung disease that generally results in progressive decline in lung function. Despite advancement of pharmacological therapy for LAM, lung transplantation remains an important option for women with end-stage LAM.

Methods: Patients with LAM undergoing lung transplantation at the Mayo Clinic campuses in Rochester, Minnesota and Jacksonville, Florida since 1995 were retrospectively reviewed.

Near-Infrared Fluorescence Lymphatic Imaging in Lymphangiomatosis.

Background: Lymphangiomatosis is a rare disorder of the lymphatic system that can impact the dermis, soft tissue, bone, and viscera and can be characterized by lymphangiomas, swelling, and chylous discharge. Whether disordered lymphangiogenesis in lymphangiomatosis affects the function and anatomy of the entire systemic lymphatic circulation or is localized to specific sites is not fully known.

Methods And Results: A 35-year-old Caucasian female diagnosed with whole-body lymphangiomatosis at 2 months of age and who continues to present with progressive disease was imaged with near-infrared fluorescence lymphatic imaging.

A case of pulmonary lymphangioleiomyomatosis complicated with uterine and retroperitoneal tumors.

A 39-year-old female experienced dyspnea on exertion for eight months. Chest CT demonstrated findings of Lymphangioleiomyomatosis (LAM), including diffuse thin-walled cystic lesions. A surgical lung biopsy revealed human melanoma black-45-positive cell infiltration and aggregation, resulting in a diagnosis of sporadic LAM without tuberous sclerosis complex.

Use of sirolimus in the treatment of lymphangioleiomyomatosis: favorable responses in patients with different extrapulmonary manifestations.

Objective: Lymphangioleiomyomatosis (LAM) is a rare disease that is currently considered a low-grade neoplasm with metastatic potential and variable progression. Mammalian target of rapamycin (mTOR) inhibitors, such as sirolimus and everolimus, have recently become a treatment option for LAM patients, especially those with extrapulmonary manifestations. The objective of the present study was to describe a case series of four patients with LAM in Brazil who showed significant improvement, particularly in their extrapulmonary manifestations, after treatment with sirolimus (at 1-4 mg/day).

Tuberous sclerosis complex presenting as pulmonary lymphangioleiomyomatosis--a clinicoradiological diagnosis.

Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex.

Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement.

Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disease with high phenotypic variability. The incidence is approximately one in 5000-10,000 births. TSC is characterized by widespread hamartomas and benign or rarely malignant neoplasms affecting various organs, most commonly the brain, skin, retinas, kidneys, heart, and lungs.

Effect of fasting on the size of lymphangioleiomyomas in patients with lymphangioleiomyomatosis.

Background: Lymphangioleiomyomas occur in 38% of patients with sporadic lymphangioleiomyomatosis (LAM) and may cause pain and increased abdominal girth, mimicking the presence of a malignancy. Lymphatic involvement in LAM is closely associated with elevated serum levels of vascular endothelium growth factor-D (VEGF-D). Because lymphangioleiomyomas undergo diurnal variation in volume, we hypothesized that daytime ingestion of food, by increasing chyle formation and lymphatic flow, is the cause of an increase in lymphangioleiomyoma volume.

Characterization of cells cultured from chylous effusion from a patient with sporadic lymphangioleiomyomatosis.

Background: Lymphangioleiomyomatosis (LAM) is a progressive, rare interstitial lung disease that almost exclusively affects women. It is caused by a mutation in one of the tuberous sclerosis genes, TSC1 or TSC2, and constitutive activation of the mammalian target of rapamycin (mTOR) pathway in smooth muscle-like cells (LAM cells). The heightened proliferation and accumulation of LAM cells leads to the destruction of lung tissue.

Cystic and nodular lung disease.

Diffuse cystic and nodular lung diseases have characteristic imaging findings. The most common causes of cystic lung disease are lymphangioleiomyomatosis and Langerhans cell histiocytosis. Other less common cystic lung diseases include Birt-Hogg-Dube syndrome, lymphocytic interstitial pneumonitis, and light chain deposition disease.

Cyst-based measurements for assessing lymphangioleiomyomatosis in computed tomography.

Purpose: To investigate the efficacy of a new family of measurements made on individual pulmonary cysts extracted from computed tomography (CT) for assessing the severity of lymphangioleiomyomatosis (LAM).

Methods: CT images were analyzed using thresholding to identify a cystic region of interest from chest CT of LAM patients. Individual cysts were then extracted from the cystic region by the watershed algorithm, which separates individual cysts based on subtle edges within the cystic regions.

Diffuse Cystic Lung Disease. Part II.

The diffuse cystic lung diseases have a broad differential diagnosis. A wide variety of pathophysiological processes spanning the spectrum from airway obstruction to lung remodeling can lead to multifocal cyst development in the lung. Although lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis are perhaps more frequently seen in the clinic, disorders such as Birt-Hogg-Dubé syndrome, lymphocytic interstitial pneumonia, follicular bronchiolitis, and light-chain deposition disease are increasingly being recognized.

Comprehensive imaging manifestations of tuberous sclerosis.

Objective: The purposes of this article are to describe the abdominal manifestations of tuberous sclerosis, including renal and hepatic angiomyolipomas, splenic hamartomas, and renal cysts; the differentiation of renal angiomyolipomas from renal cell carcinoma by use of various imaging modalities; and the key imaging findings of intracranial subependymal nodules, giant cell astrocytomas, cortical tubers, lymphangioleiomyomatosis, cardiac rhabdomyomas, and osseous lesions.

Conclusion: Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Correct diagnosis of this syndrome is imperative, not only by detecting cutaneous manifestations at physical examination but also by recognizing the characteristic multimodality imaging findings.

Cystic lung disease: systematic, stepwise diagnosis.

Once cystic lung disease is confirmed on computed tomography, one can arrive at the likely diagnosis in most cases by taking a systematic, stepwise approach based on the clinical and radiographic features. Here, we describe the features of cystic lung disease that point to lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, pulmonary angerhans cell histiocytosis, interstitial pneumonia, congenital cystic lung disease, pulmonary infection, and systemic disease.

[Unusually late debut of lymphangioleiomyomatosis].

The rare, severe lung disease lymphangioleiomyomatosis (LAM) usually presents with dyspnoea on exertion, cough and expectoration in females in the third decade and is worsened by pregnancy or hormone therapy. Lung transplant is often needed within ten years since no specific treatment is available. The patient in this case report was a mother of two, who had never received hormone therapy.

Pulmonary lymphangioleiomyomatosis: analysis of disease manifestation by region-based quantification of lung parenchyma.

Purpose: Lymphangioleiomyomatosis (LAM) is characterized by proliferation of smooth muscle tissue that causes bronchial obstruction and secondary cystic destruction of lung parenchyma. The aim of this study was to evaluate the typical distribution of cystic defects in LAM with quantitative volumetric chest computed tomography (CT).

Materials And Methods: CT examinations of 20 patients with confirmed LAM were evaluated with region-based quantification of lung parenchyma.