| 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. ( info) |
2/78. Intraabdominal lymphangiomyoma in an infant with protein-losing enteropathy and hemihypertrophy. lymphangiomyoma is an extremely rare tumor occurring exclusively in women of reproductive age. The tumor is characterized by proliferation of immature smooth muscle along the lymphatic vessels of the abdomen, thorax and lung. Although lymphangiomyoma has been reported in a young girl and a girl infant, none has been reported in boys. We report herein a case of lymphangiomyoma in a two-year-old boy. The unusual presentation in this patient was that the tumor arose from the small bowel mesentery without any evidence of lung involvement. The tumor was extirpated and lymphangiomyomatosis was confirmed pathologically. ( info) |
| A 15-year-old girl who presented with cough and dyspnea was found to have a mediastinal tumor that clinically resembled a lymphangioma. The tumor was unusual for its large size and its histologic features, which showed smooth muscle proliferation, generally considered a feature of lymphangiomyoma. ( info) |
| The gender-specific prevalence of lymphangioleiomyomatosis (LAM) in premenopausal women suggests a hormonal etiology. Despite the antiestrogenic treatment (ovariectomy, tamoxifen) this disease is often refractory to therapy and almost inevitably leads to the patient's death. We describe a case where the antiproliferative effect of systemically applied interferon alpha 2b was successfully employed in addition to ovariectomy and the patient reached complete remission. ( info) |
5/78. Characterization of the smooth muscle cell infiltrate and associated connective matrix of lymphangiomyomatosis. Immunohistochemical and ultrastructural study of two cases. Lymphangiomyomatosis (LAM) consists of smooth muscle (SM) cell proliferation of unknown origin involving the lymph nodes and the lung interstitium. From morphological studies showing both SM differentiation of the proliferating cells and lymphatic hyperplasia, hypotheses were suggested concerning the origin of the proliferation. Two cases of LAM were investigated by electron microscopy and immunohistochemistry; tissues were obtained by lymph node and open lung biopsies. Cytoplasmic and matrix protein markers were used in order to clarify the pattern of differentiation of the proliferating cells and to characterize their connective tissue environment. The proliferating cells present ultrastructural characteristics of SM cells; they contain vimentin, desmin, and alpha-SM actin and are devoid of factor viii, favouring a parieto-arterial origin. The connective tissue matrix inside the infiltrate is composed of interstitial collagens and basement membrane components. At the late stage of the disease, remodelling of the interstitial matrix accompanies the infiltrate and remains perilesional. ( info) |
6/78. Pulmonary lymphangiomyomatosis. We report a case of pulmonary lymphangiomyomatosis in a young female. CT--and especially high resolution CT--is more specific and sensitive than chest radiography in showing the lung abnormalities. Pathognomonic CT findings are the presence of thin walled cystic air spaces spread throughout the lung parenchyma without nodules and without regional predominance and mostly surrounded by normal parenchyma. The superposition of the multiple thin walls of the cysts is responsible for the reticular interstitial pattern observed at chest radiography. ( info) |
7/78. Failure of buserelin-induced medical castration to control pulmonary lymphangiomyomatosis in two patients. Two women, aged 44 and 29 years, respectively, were admitted to the hospital in early 1987 for recurrent pneumothorax, dyspnea and a diffuse reticulonodular pattern evidenced on the chest x-ray film. Lung biopsy confirmed LAM in both patients. Both were treated sequentially with medroxyprogesterone and a LHRH agonist (buserelin) to achieve reversible medical castration. Neither subjective nor objective improvement was noted after 13 and 5 months, respectively, of buserelin therapy (900 micrograms/day, nasal spray) despite an effective suppression of the pituitary-gonadal axis. medroxyprogesterone also was ineffective. buserelin thus failed to control pulmonary LAM in these two patients, in spite of effective medical castration. ( info) |
8/78. Pulmonary lymphangiomyomatosis treated by single lung transplantation. Pulmonary lymphangiomyomatosis is a rare disease resistant to almost all medical treatments to date. We describe the case of a 44-yr-old woman with end-stage pulmonary lymphangiomyomatosis who was treated by single-lung transplantation. The patient is doing well in her sixteenth post-transplantation month and has a marked improvement in her pulmonary function tests and walking distance as compared with preoperative values, and she is enjoying an unrestricted life-style. ( info) |
9/78. Acute abdominal pain as presenting symptom in lymphangiomyomatosis. Case report. A case of lymphangiomyomatosis presenting with acute abdominal pain is described. laparotomy revealed a multiloculated cystic mass on the posterior abdominal wall with typical histological pattern. In the ensuing 3 years the respiratory manifestations of this rare disorder have slowly progressed. Possible causal factors and management are discussed. ( info) |
10/78. Retroperitoneal lymphangioleiomyoma mimicking ovarian tumor emerging after tamoxifen therapy. BACKGROUND: Lymphangioleiomyomas are lymphatic masses that can be associated with lymphangioleiomyomatosis. They are usually associated with pulmonary involvement. CASE: A 44-year-old premenopausal woman with breast cancer treated with adjuvant tamoxifen presented with abdominal distension. A thoraco-abdominopelvic enhanced computed tomography scan showed a 22 x 21 x 12 cm well-encapsulated, complex pelvic mass. An ovarian cystadenocarcinoma was suspected. Surgery revealed a retroperitoneal mass that was removed with uterus and both adnexae. Histological and immunohistochemical studies diagnosed a lymphangioleiomyoma. Estrogen and progesterone receptors were positive on smooth muscle cells and human melanoma black 45 was negative. CONCLUSION: Isolated retroperitoneal lymphangioleiomyoma is rare and difficult to detect in the absence of pulmonary lymphangioleiomyomatosis. We speculate that tamoxifen treatment may play a role in the development of this benign tumor. ( info) |