1/15. Pulmonary lymphangiomyomatosis: three new cases studied with electron microscopy.Three cases of pulmonary lymphangiomyomatosis are described, with emphasis on the ultrastructural changes. The clinicopathologic features corresponded to those previously described. Each patient was a female in the reproductive years; breathlessness and recurrent pneumothoraces were the predominant clinical features. Histologically, the lungs showed a focal interstitial infiltrate of short, spindle-shaped mononuclear cells compatible with primitive smooth muscle, which was associated with irregular emphysema and hemosiderosis. Electron microscopy confirmed the smooth muscle nature of the pulmonary infiltrate and showed the presence of cells intermediate between smooth muscle and fibroblasts. Abnormalities were also noted in the pulmonary connective tissue that are possibly related to the fragility of the lung in this condition.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/15. Pulmonary angiomyolipoma and multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis.A 36-year-old woman with a long-standing diagnosis of tuberous sclerosis was found dead. A yellow-tan 0.4 cm-diameter pulmonary tumor was identified at autopsy which had typical microscopic features of an angiomyolipoma (AML). Immunohistochemical stains showed reactivity for actin, but not HMB-45, Melan-A, and tyrosinase (despite reactivity of the patient's renal AML for HMB-45 and Melan-A), perhaps owing to the small size of the lesion and the sometimes focal nature of the reactivity for these markers. Additional lung nodules proved to be multifocal micronodular pneumocyte hyperplasia. This report highlights the first occurrence of a pulmonary angiomyolipoma in the setting of tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/15. Resurfacing of facial angiofibromas in tuberous sclerosis patients using CO2 laser with flashscanner.BACKGROUND: Angiofibromas are a common presentation of tuberous sclerosis. They cause considerable cosmetic and hygienic morbidity for patients. Treatments of angiofibromas have included curettage, cryosurgery, chemical peel, dermabrasion, shave excision, and 13-cis retinoic acid. Results from these modalities in many cases were not satisfactory from a cosmetic standpoint. copper vapor, argon, pulsed dye, and CO2 lasers have been used with success in isolated cases. OBJECTIVE: The purpose of this study was to evaluate the efficacy of CO2 laser resurfacing with flashscanner in the treatment of facial angiofibromas. methods: Two patients with angiofibromas on the face were treated with a CO2 laser with flashscanner. The cheek and nose were treated in one patient, and entire face was done in the other. RESULTS: Both patients showed remarkable cosmetic improvements without scarring. Mild hyperpigmentation was found in both patients, which disappeared in 1 month with the application of topical agents. Facial erythema persisted about 2 months in both patients. CONCLUSION: A CO2 laser equipped with flashscanner causes less residual thermal damage than conventional CO2 lasers and enables controlled depth vaporization for more precise and regular removal of angiofibromas. In whole-face resurfacing, more cosmetically acceptable results are possible because localized treatment leaves marginal prominences. Laser resurfacing is an effective alternative in the treatment of multiple protuberant angiofibromas even though we cannot permanently clear these lesions due to their nature.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/15. Hamartomatous gastric polyposis in a patient with tuberous sclerosis.A 42-year-old female diagnosed with tuberous sclerosis was found to have multiple polyps in the fundus of stomach. On histologic examination, the lesions were hamartomatous polyps. In tuberous sclerosis, many lesions occur in multiple organs and there are several reports about the frequent association of hamartomatous polyps of the colon. However, gastric manifestation of tuberous sclerosis has not been established probably due to its asymptomatic nature. This is the first report of multiple gastric hamartomatous polyposis in patient with tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/15. hamartoma of the spleen: a manfestation of tuberous sclerosis.An unusual case of tuberous sclerosis is presented in which splenomegaly and abdominal pain predominated. The clinical manifestations of the disease are discussed, and the generalized hamartonmatous nature of the diseases is emphasized.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/15. An autopsy case of tuberous sclerosis. Histological and immunohistochemical study.We report an autopsy case of tuberous sclerosis. A 19-year-old Japanese man had shown facial adenoma sebaceum, intractable convulsive seizures and severe mental retardation. Gross inspection of the brain showed a cortical tuber from the orbital frontal lobe to the rhinencephalon of the left side and a few subependymal nodules. Histological examination revealed many cortical tubers in the cerebral hemispheres, a few subependymal nodules with calcification and multifocal clusters of heterotopic cells in the white matter (white matter nodules). In these lesions, massive giant cells with abundant eosinophilic cytoplasm and without Nissl substances were found. Although the size and shape of the giant cells were variable, the majority of them were gemistcytic, ovoid or polygonal. immunohistochemistry was employed in these lesions using antibodies against neurofilament protein (NFP), glial fibrillary acidic protein (GFAP), vimentin (VM) and myelin basic protein (MBP). In the cortical tuber, the majority of the giant cells were positive for both NFP and VM, but a few were positive for GFAP. All of them were negative for MBP. In the subependymal nodule and white matter nodule, the majority of the giant cells were positive for NFP, but a few were positive for VM, and none were positive for either GFAP and MBP. These findings suggest that the majority of the giant cells may be immature cells toward neuronal series and a few may be those toward astroglial series. These findings also indicate that the giant cells in the subependymal nodule and white matter nodule may be more differentiated than those in the cortical tuber. The nature of the giant cells in tuberous sclerosis is discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/15. tuberous sclerosis.tuberous sclerosis (epiloia, Bourneville-Pringle syndrome) is an inherited disease with an autosomal pattern. Both sexes are affected equally with varied expression in successive generations. Two cases of this unusual disorder in siblings are reported. They illustrate heredofamilial nature, dissimilar expression, mutations, and oral manifestations.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/15. Micronodular hyperplasia of type II pneumocytes--a new lung lesion associated with tuberous sclerosis.Open lung biopsy in a 38-year-old female with Pringle-Bourneville syndrome and recurrent pneumothorax revealed a micronodular pneumocyte II hyperplasia, a new entity probably associated with the tuberous sclerosis syndrome. The lesion caused an obstruction of the alveolar lymphatic vessels and alveolar ducts, resulting in an emphysema-like picture. This cystic dilation of alveoli and draining lymphatics followed by rupture caused the recurrent pneumothorax. The epithelial pneumocytic nature of the lesion was confirmed by immunohistochemistry and electronmicroscopy.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/15. An autopsy case of tuberous sclerosis associated with primary pericardial mesothelioma.tuberous sclerosis (Bourneville-Pringle phacomatosis) has been known to be associated with cardiac rhabdomyoma, but apparently never previously with primary pericardial mesothelioma. We present an autopsy case of this condition in a 59-year-old man, who had been diagnosed as having tuberous sclerosis in view of the presence of facial sebaceous adenoma, mental retardation, intracranial calcification, cerebral ventricular dilatation and renal tumor. During the clinical course, characterized by heart failure due to cardiac tamponade, cardiac sarcoma was diagnosed by imaging techniques. autopsy revealed biphasic-type primary pericardial mesothelioma. As to the tuberous sclerosis, atypical giant cells in the tubers of the cerebral cortex and the lateral ventricular wall were found, which were considered to be derived from neurons rather than glial cells on the basis of staining with Bodian, Holzer, and antibodies against NSE, GFA and S-100 protein. In old tubers protruding into the lateral ventricles, fibrous glias were present with dense calcospherite deposits, coinciding with the CT findings. The renal tumors were angiomyolipomas, which were present bilaterally and showed partially infiltrative growth, but seemed to have a benign nature because of the lack of metastasis and atypism of the leiomyocytes.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/15. Abnormal division and gene expression in cultured cells from a patient with tuberous sclerosis.tuberous sclerosis is a dominant hereditary disease characterized by the appearance of angiofibromas on the face, epileptic attacks, and mental retardation. attention has been paid to the atypical cells observed histologically in the stroma of the angiofibroma as they may play an important role in forming lesions. We have established a cell line from an angiofibroma to clarify the nature of these cells at the cellular and biochemical levels. The cultured cells have been stably maintained for four years and show an abnormal morphology resembling that of neuronal cells. In culture, these cells divide into daughter cells, which consist of both normal cells and abnormal ones whose nuclei disintegrate and cannot divide further. The cells resemble normal fibroblasts in their pattern of staining with antibodies against tubulin, actin, vimentin, and fibronectin. However, they also stain with an antibody against the glia-specific acidic protein, which is thought to be a specific marker protein for glial cells. The gel profile of cyclic-AMP binding proteins was not fibroblastic, but rather of the neuron cell type. These results indicate the gene expression of these cells is also abnormal. They are a useful tool for understanding this specific genetic disease.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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