1/23. Fine needle aspiration diagnosis of lymphangiomyomatosis. A case report.BACKGROUND: Lymphangiomyomatosis is a rare disease of females, usually of reproductive age. There is a proliferation of lymphatic smooth muscle in mediastinal, retroperitoneal and often pulmonary lymphatics and lymph nodes. CASE: A 45-year-old female presented with a right pleural effusion and increasing retroperitoneal adenopathy with palpable left inguinal adenopathy. Three months previously she had undergone a right salpingo-oophrectomy for an ovarian fibroma with concomitant left ovarian wedge biopsy, myomectomy for leiomyomas and partial omentectomy. Three years previously, at age 42, she had experienced two transient episodes of chylous pleural effusion with no sequelae. She underwent computed tomography-guided fine needle aspiration of a 4-cm inguinal lymph node to rule out lymphoma. CONCLUSION: Fine needle aspiration of lymphangiomyomatosis yields distinctive cytologic morphology. This characteristic morphology, in combination with the appropriate history, permits a minimally invasive, timely and in this particular case, entirely unexpected diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/23. Lymphangiomyomatosis: radiological and measured lung function deterioration after contrast-enhanced computed tomography.Pulmonary lymphangiomyomatosis (LAM) is a rare disease of unknown aetiology which occurs exclusively in women, usually of reproductive age. The findings on CT and high-resolution CT (HRCT) are well described and characteristic, and in a young woman they are virtually pathognomonic. A case of symptomatic, radiological and measured lung function deterioration following contrast-enhanced CT in a patient with LAM are reported here. These observations, to the authors' knowledge, have never been reported before. The authors attempt to explain these observations based on the known pathology of LAM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/23. Renal and pulmonary lymphangioleiomyomatosis: a case report.lymphangioleiomyomatosis (LAM) is a rare disease that most commonly involves the lung. However, extrapulmonary lymphangioleiomyomatosis rarely occurs with or without subsequent involvement of the lung. We report a case of incidentally found renal and pulmonary lymphangioleiomyomatosis in a patient who had no stigmata of tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/23. Cytologic finding of chyloascites in lymphangioleiomyomatosis. A case report.BACKGROUND: lymphangioleiomyomatosis is a rare disease, histologically characterized by an abnormal proliferation of smooth muscle around the lymphatics. Lung is the most common site of involvement, and patients usually present with dyspnea, chest pain, and cough. Chylous pleural effusion and ascites occasionally appear during the course of the disease. There are only a few reports on the cytologic findings in this disease. To our knowledge, the cytologic findings of chylous pleural effusion and chyloascites have not been reported before. CASE: A 23-year-old female presented with chylothorax, chyloascites and a retroperitoneal mass. Cytologic examination of chylous pleural effusion and chyloascites revealed numerous cohesive and thick clusters of cells with a high nuclear/cytoplasmic ratio, oval nuclei and slightly increased chromatin content. mitosis and necrosis were not observed. Exploratory laparotomy and transbronchial lung biopsy were performed, and the histologic diagnosis was lymphangioleiomyomatosis involving the retroperitoneal lymph nodes, uterine fundus and lungs. immunohistochemistry showed that the characteristic clusters in chylous fluids were positive for alpha-smooth muscle actin. CONCLUSION: A diagnosis of lymphangioleiomyomatosis is possible from cytologic findings of effusions with the aid of clinical findings.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/23. Exacerbation of pulmonary lymphangioleiomyomatosis by exogenous oestrogen used for infertility treatment.Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease that affects women in the reproductive years. It is occasionally associated with tuberous sclerosis, especially in the incomplete form. As it is likely that oestrogen plays a central role in disease progression, exogenous oestrogen will cause a deterioration in LAM. However, the early stage of this disease is easy to miss unless the physician is a specialist. Although there have been some reports in menopausal women given exogenous oestrogen for osteoporosis, this is the first report of pulmonary LAM caused by exogenous oestrogen used for the treatment of infertility.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/23. recurrence of lymphangioleiomyomatosis after single lung transplantation: new insights into pathogenesis.lymphangioleiomyomatosis (LAM) is a rare disease found primarily in white women of childbearing age. The present study describes a case of recurrent LAM after single lung transplantation. Double-staining nonisotopic in situ hybridization, immunohistochemistry, and short tandem repeat loci analysis demonstrated that the recurrent LAM lesions originated from the recipient. The data strongly support that metastatic spread of LAM cells or migration of progenitor cells plays an important role in the pathogenesis of LAM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/23. Localized retroperitoneal lymphangioleiomyomatosis mimicking malignancy. A case report and review of the literature.lymphangioleiomyomatosis (lymphangiomyomatosis [LAM]), a rare disease of unknown etiology that is seen only in women usually in the reproductive period, generally presents with features of pulmonary involvement. Extrapulmonary involvement, such as angiomyolipomas and retroperitoneal adenopathy, can occur in up to 75% of cases. It is very rare, however, for patients to present with features of extrapulmonary LAM. We present an unusual, localized case of LAM presenting with neurologic symptoms related to a retroperitoneal mass in a 51-year-old woman. magnetic resonance imaging showed that the mass involved retroperitoneal lymph nodes, and a clinical diagnosis of atypical sarcoma (possibly from a uterine primary) was made. The mass was resected, and a total abdominal hysterectomy was performed. On pathologic examination, the mass showed classic histologic features of LAM with spread along lymphatic channels in the lymph nodes. Intralymphatic projections simulated lymphatic metastasis; however, the cytologic features were benign. Immunostains revealed the tumor to be positive for smooth muscle actin and desmin, but negative for HMB-45. The uterus was unremarkable, except for a subserosal leiomyoma. Although intratumoral variability for HMB-45 has recently been described, to the best of our knowledge, this is the first documented case of HMB-45-negative, histologically classic LAM. Because of the presence of several atypical features in this case, such as age, location, compressive neurologic presentation, radiologic impression of atypical sarcoma, and HMB-45 negativity, we feel that this case may represent a distinct, as yet uncharacterized variant of LAM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/23. Difficulties in the diagnosis of rare immunological diseases manifesting with cystic lung disease and spontaneous pneumothorax: case reports.Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of an unknown cause affecting women of reproductive age and characterised by smooth muscle proliferation along lung lymphatic channels. pneumothorax develops in up to 80% of patients with LAM and may be the presenting manifestation of the disease. pneumothorax also precedes or complicates the clinical course of 25% of patients with Langerhans'-cell histiocytosis (LCH, histiocytosis X) pathologically characterised by involved tissue infiltration with large numbers of unusual Langerhans' cells, often organised as granulomas. A 41-year-old female patient was treated twice by simple tube drainage due to left pneumothorax in 1996. She was then diagnosed with chronic obstructive lung disease demonstrating with dyspnea, cough and wheeze. Abnormalities found in the high-resolution computed tomography (HRCT) scanning were characteristic of LAM with thin-walled parenchymal cysts distributed homogeneously in both lungs and with thickening of interlobular septa. A 38-year-old man was hospitalised due to chronic lung failure in the course of LCH characterised by small, poorly limited nodular lesions and thin-walled cysts revealed in HRCT scans. For two years of observation, he has suffered five episodes of right pneumothorax. When diagnosing pneumothorax in the middle-age patients, the possible cause of the disease is LAM or LCH. The use of HRCT scanning may enable good determination of the nature and distribution of parenchymal abnormalities found in the diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/23. Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy.Both pulmonary lymphangioleiomyomatosis and tuberous sclerosis are rare diseases. The optimal management in pregnancy is unclear. A primigravida with pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by worsening renal function secondary to angiomyolipomas was managed conservatively. Favorable maternal and neonatal outcomes were achieved. Pulmonary lymphangioleiomyomatosis is a consideration in tuberous sclerosis patients with respiratory symptoms. tuberous sclerosis patients with pulmonary lymphangioleiomyomatosis require cautious and calculated expectant management in an effort to avoid adverse outcomes.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/23. lymphangioleiomyomatosis: a case report and review of the literature.lymphangioleiomyomatosis, a rare disease of unknown etiology that is seen almost exclusively in women of childbearing age, generally presents with features of pulmonary involvement. It may be associated with tuberous sclerosis. Its clinical pulmonary manifestations vary from simple cough to the development of recurrent pneumothorax, hemoptysis, and even complicated pleural effusions. Progressive dyspnea develops as the disease evolves. Most patients eventually require lung transplant. This wide array of symptoms and signs makes the differential diagnosis extensive, and the clinician must be familiar with this disorder to arrive promptly to the correct diagnosis. Here we report a case of a 35-year-old woman with a history of pleuritic effusion with associated dyspnea before being diagnosed with lymphangioleiomyomatosis. A review of the literature pertinent to this case is also provided.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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