1/12. Pulmonary lymphangioleiomyomatosis in a man.Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with pulmonary LAM. fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC), including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). loss of heterozygosity (LOH) for TSC2 was further demonstrated in the renal angiomyolipoma. Coupled with the results of immunostains, these findings are consistent with TSC2 mutation.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
2/12. Pulmonary lymphangioleiomyomatosis. Report of a case with associated multiple soft-tissue tumors.We describe a 55-year-old woman with pulmonary lymphangioleiomyomatosis. The patient died of respiratory failure 9 years after diagnosis. An autopsy confirmed the diagnosis and disclosed multiple soft-tissue tumors, including a large solitary fibrous tumor of the lung, a huge cavernous hemangioma of the liver, a meningioma of the right pontocerebellar angle, and a focus of nodular stromal hyperplasia of the ovary. In addition, endocrine tumors, including a papillary carcinoma of the thyroid gland and a parathyroid adenoma, were also found. There was no evidence of tuberous sclerosis or angiomyolipoma of the kidney. The connection between pulmonary lymphangioleiomyomatosis and tuberous sclerosis is discussed.- - - - - - - - - - ranking = 2keywords = sclerosis (Clic here for more details about this article) |
3/12. tuberous sclerosis with pulmonary involvement.Pulmonary involvement in tuberous sclerosis (pTS) is very rare and seems to be associated with a more benign course, compared to tuberous sclerosis without pulmonary manifestation (TS). Furthermore, pTS seems to be related to lymphangiomyomatosis (LAM). We present the case of a 33-year-old woman in whom the overlap of TS, pTS and LAM is demonstrated. Treatment with medroxyprogesterone was initiated, but without success.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
4/12. Multiple unilateral renal angiomyolipomas with regional lymphangioleiomyomatosis.We present an unusual case of multiple unilateral renal angiomyolipomas occurring together with lymphangioleiomyomatosis of the regional lymph nodes. The association of these 2 hamartomatous lesions has been described only rarely but lends support to the concept that they represent a forme fruste of the tuberous sclerosis disease complex.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
5/12. lymphangioleiomyomatosis. A case report with an immunohistochemical study.A case of pulmonary lymphangioleiomyomatosis is presented, which occurred in a 50-year-old woman suffering from severe dyspnea of 7 year's duration and with a previous history of diseases (polycystic ovaries and endometrial adenocarcinoma) usually related to hyperestrogenism. The patient showed no signs or symptoms of tuberous sclerosis, a condition often associated with pulmonary lymphangioleiomyomatosis. Both the radiological pattern and histological findings had previously been interpreted at other hospitals as consistent with either nodular interstitial fibrosis with emphysematous changes or pulmonary siderosis. Correct diagnosis was suspected on critical review of histological slides and definitely achieved by immunohistochemistry in routine sections, which showed the presence of desmin in the elements constituting the nodular lesions scattered throughout the parenchyma. The criteria for the differential diagnosis are discussed, as well as the role of immunohistochemistry in assessing the muscular nature of proliferating cells.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
6/12. Pulmonary and extrapulmonary lymphangioleiomyomatosis. Report of a case with bilateral renal angiomyolipomas, multifocal lymphangioleiomyomatosis, and a glial polyp of the endocervix.The authors report an extraordinary case of a 33-year-old female who had pulmonary and extrapulmonary lymphangioleiomyomatosis, bilateral renal angiomyolipomas, multifocal lymphangioleiomyomatosis involving the uterus, ovaries, periadrenal vessels, and liver. The patient also had a glial polyp of the endocervix which represented retained fetal parts from an abortion 15 years earlier. Both ovaries showed multiple follicle cysts which may have been a source of endogenous estrogen. The classical stigmata of the tuberous sclerosis complex were absent. The multifocal lymphangioleiomyomatosis of the various organs described presents an extremely rare manifestation of this disorder.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
7/12. Pulmonary lymphangiomyomatosis associated with tuberous sclerosis. Treatment with tamoxifen and tetracycline-pleurodesis.A 44-year-old woman was seen with the clinical and histologic picture of lymphangiomyomatosis syndrome. She also had dermatologic and neurologic stigmata of tuberous sclerosis. After the development of a recurring chylothorax, she had a downhill course unresponsive to dietary, bronchodilator, corticosteroid and progesterone therapy. In an open lung specimen, the search for steroid receptor for estrogen was positive. The discovery in this case of an estrogen receptor represents important evidence for establishing an association between tuberous sclerosis and lymphangiomyomatosis. tamoxifen therapy and tetracycline pleurodesis were successful in stopping the progressive course and controlling the chylothorax.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
8/12. Pulmonary lymphangioleiomyomatosis: quantitative analysis of lesions producing airflow limitation.The lungs of three patients dying of lymphangioleiomyomatosis (LAM), which in two of the patients was associated with tuberous sclerosis, were studied to characterize better the sites of airflow limitation in this condition. Quantitative studies showed that small airways were narrowed and collapsed because of the surrounding emphysema, but few airways contained excess smooth muscle. These findings suggest that the airspace lesions are more important than muscular proliferation in small airways in producing airflow limitation. In the two patients who had LAM with tuberous sclerosis, sex steroid assays were negative. pleurodesis controlled pleural effusions in all three patients but may have contributed to reductions in lung volume.- - - - - - - - - - ranking = 2keywords = sclerosis (Clic here for more details about this article) |
9/12. Pulmonary lymphangioleiomyomatosis and Bourneville's tuberous sclerosis with pulmonary involvement: the same disease?The authors studied the ultrastructural morphology of the lung in one case of Bourneville's tuberous sclerosis with pulmonary involvement. The observations in this report are similar to those previously reported in pulmonary lymphangioleiomyomatosis and further emphasize the striking resemblance between the two diseases.- - - - - - - - - - ranking = 5keywords = sclerosis (Clic here for more details about this article) |
10/12. Chromosome typing in lymphangioleiomyomatosis of the lung with and without tuberous sclerosis.Two cases of lymphangioleiomyomatosis (LLM) of the lungs are compared, one with tuberous sclerosis and the other representing an isolated lung involvement. An increased frequency of complex chromosomal rearrangements was found in peripheral lymphocytes of the patient with tuberous sclerosis, in comparison to the patient with isolated lymphangioleiomyomatosis. Telomeric associations were found in cultured pulmonary smooth muscle cells from the patient with isolated LLM.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
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