1/4. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/4. 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 = 0.25keywords = complex (Clic here for more details about this article) |
3/4. Unilateral facial angiofibromas--a segmental form of tuberous sclerosis.Multiple facial angiofibromas are thought to be a pathognomonic and common, feature of tuberous sclerosis. In contrast, it is rare to see multiple angiofibromas limited to one side of the face. We have studied a patient with multiple angiofibromas of one cheek, in order to search for other manifestations of tuberous sclerosis and to determine the histochemical identity of the angiofibromas. No evidence of other pathology known to be associated with the tuberous sclerosis complex was uncovered. Histopathology of the unilateral lesions revealed focal fibroplasia and positive cellular staining for factor xiiia and vimentin, similar to that described for bilateral angiofibromas. We suggested that the segmental expression of tuberous sclerosis, in the form of unilateral facial angiofibromas, may result from a postzygotic mutation.- - - - - - - - - - ranking = 0.25keywords = complex (Clic here for more details about this article) |
4/4. A cutaneous case of giant cell angiofibroma occurring with dermatofibrosarcoma protuberans and showing bimodal CD34 fibroblastic and FXIIIa histiocytic immunophenotype.Dei Tos and colleagues in 1995 reported a series of seven distinctive orbital tumors in adults which they named giant cell angiofibroma (GCA). The morphologic features are intermediate between giant cell fibroblastoma and solitary fibrous tumor with a richly vascularized, patternless spindle cell proliferation forming a collagenous or myxoid stroma with pseudovascular angiectoid spaces. The spindled tumor cells have large, rounded nuclei, sometimes with complex folded shape and pseudoinclusions. There also are multi- or mononuclear giant cells, and these tumor cells partly line so-called angiectoid spaces. Cells express human progenitor cell antigen CD34 and vimentin. One case in the buccinator fascia was also noted by the authors, but similar cutaneous lesions are thus far unknown. We report our experience with a polypoid tumor that ocurred on the thigh of a 49-year-old woman that conforms to the description of GCA. The tumor has variegated vessels admixed with patternless spindle and giant cell stroma with angiectoid spaces as well as areas of dermatofibrosarcoma protuberans (DFSP). Most tumor cells express vimentin and CD34, including giant and spindle cells lining angiectoid spaces. Focally up to 40% of the lesional cells express coagulation factor xiiia with histiocytoid to highly dendritic cytosomes. The DFSP component is composed of admixed CD34 and FXIIIa dendritic cells arranged in a storiform pattern. Tumor cells are negative for actin, desmin, S-100, and cytokeratin. The Ki67 proliferation index is 1% in GCA areas and 3% in DFSP areas; Ki 67 stains mainly fibroblasts. We conclude that this cutaneous GCA is a fibrohistiocytic tumor closely related to and representing a more organoid angioformative analog of GCF, with both being related histogenetically also to DFSP. These lesions represent part of a greater spectrum of fibrovascular tissue patterns, all probably derived from proliferations of interactive microvascular CD34 fibroblasts and FXIIIa histiocytes.- - - - - - - - - - ranking = 0.25keywords = complex (Clic here for more details about this article) |