1/190. Malignant melanoma of the choroid in neurofibromatosis.A 60-year-old white woman with generalized neurofibromatosis and multiple melanocytic hamartomas of the iris developed an unusual choroidal mass, with secondary sensory retinal separation in the left eye. Ophthalmoscopically the tumor had a peculiar donut configuration that was caused by a large focus of central necrosis within a spindle B melanoma.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
2/190. Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins.BACKGROUND: Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD: We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS: One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION: These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.- - - - - - - - - - ranking = 1.2keywords = fibromatosis (Clic here for more details about this article) |
3/190. Heterotopic pancreas, periampullary somatostatinoma and type I neurofibromatosis: a pathogenetic proposal.This case documents the association of ectopic pancreatic tissue with a duodenal somatostatinoma in a patient with type I neurofibromatosis. pancreatic ducts have been noted within the centres of somatostatinomas, but little significance has been attached to this finding. Here we describe a patient in whom a separate proliferation of somatostatin cells occurred in association with the ectopic pancreatic ductular epithelium. This lesion bore a striking resemblance to the ductulo-insular or ductulo-endocrine complexes that are seen in nesidioblastosis in the pancreas. We therefore postulate that the ducts, which are sequestered within somatostatinomas, are of pathogenetic significance. The somatostatin-producing cells arise from these ducts, very much in the fashion of ductulo-endocrine complexes in nesidioblastosis.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
4/190. Plexiform neurofibroma of the small bowel infiltrated with metastatic adenocarcinoma.Neurofibromatosis Type 1 (NF1) is not classically associated with gastrointestinal manifestations although these patients are at increased risk of several GI complications. We describe the ultrasound, CT and barium findings in a patient with NF1 who had a huge benign plexiform neurofibroma of the ileum that was infiltrated with metastatic adenocarcinoma.- - - - - - - - - - ranking = 0.2keywords = fibromatosis (Clic here for more details about this article) |
5/190. Spontaneous involution of pilocytic astrocytoma in a patient without neurofibromatosis type 1: case report.Serial magnetic resonance imaging findings are described in a patient with a sporadically occurring pilocytic astrocytoma that underwent spontaneous regression over 6 years. To the authors' knowledge, this is the first report in which spontaneous involution of a pilocytic astrocytoma not associated with neurofibromatosis type 1 has been described. A literature review regarding sporadic and syndrome-associated pilocytic astrocytoma was undertaken, with particular reference to treatment and natural history.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
6/190. Malignant schwannoma of the stomach in a patient with von Recklinghausen's disease.A patient with von Recklinghausen's disease died with a malignant schwannoma of the stomach and was found at autopsy to have neurofibromatosis of the gastrointestinal tract, a plexiform neurofibroma of the myocardium and a phaechromocytoma. Malignancy of the gastrointestinal tract in von Recklinghausen's disease is rare, and this case highlights the difficulties in histological diagnosis of malignant nerve sheath tumours.- - - - - - - - - - ranking = 0.2keywords = fibromatosis (Clic here for more details about this article) |
7/190. Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn.We describe an unusual case involving the simultaneous occurrence of segmental neurofibromatosis (Type V NF) in a patient with a large nevus sebaceus of Jadassohn in the same physical distribution. Causative mechanisms of development of these 2 genetic disorders have not been definitively linked. Factors producing these diseases probably involve similar tissues at the same point in development because both have been reported in association with central nervous system anomalies and have been classified among the neurocutaneous syndromes. This is a case of a nevus sebaceus occurring in association with and in the same physical distribution as segmental NF. These disorders most likely represent a spectrum of disease within the phakomatoses.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
8/190. Solitary neurofibroma of the mesentery: report of a case and review of the literature.Neurofibromas of the gastrointestinal tract are usually associated with neurofibromatosis type 1 (Nfl), or they are exclusive manifestations of the so-called "familial intestinal neurofibromatosis". Gastrointestinal neurofibromas can rarely occur as sporadic lesions in the jejunum and stomach, and only exceptionally in the mesentery. A critical review of the literature revealed that only seven cases of solitary neurofibromas (SNFs) of the mesentery (six in the ileal mesentery; one in the gastrocolic mesentery) have been reported in patients without stigmata of Nf1. We report the clinicopathologic features of an additional case of SNF of the ileal mesentery, incidentally found in a patient with an advanced gastric carcinoma. Since there is increasing evidence that some patients may have some features of Nf1, including dermal or nodular SNFs alone - limited to one or more body segments - (segmental Nf1), the possibility that SNFs of the mesentery may also represent a segmental manifestation of Nf1 is postulated.- - - - - - - - - - ranking = 0.4keywords = fibromatosis (Clic here for more details about this article) |
9/190. Juvenile hyaline fibromatosis complicated with oral squamous cell carcinoma: a case report.A 45-year-old woman was referred because of swelling of the palate, gingival hypertrophy, and multiple cutaneous tumors. She had many cutaneous tumors, which covered most of her body, and she also displayed contractures of the major joints. Maxillary and mandibular gingival hypertrophy, malposition of the teeth, and swelling of the hard palate were the oral findings. The histopathologic features of the cutaneous and gingival tumors were consistent with hyaline fibromatosis, and the swelling of the palate proved to be a squamous cell carcinoma. The carcinoma was treated with tegafur/uracil and seemed to respond to this therapy.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
10/190. Schwannomatosis of the sciatic nerve.A 52-year-old woman with schwannomatosis in the left sciatic nerve is presented. The patient had no stigmata of neurofibromatosis (NF) type 1 or 2. Cutaneous or spinal schwannomas were not detected. Magnetic resonance (MR) imaging of the sciatic nerve revealed more than 15 tumors along the course of the nerve. Histological examination revealed schwannomas consisting of Antoni A and B areas. Immunohistochemical study showed most cells reacting intensely for S-100 protein. The patient underwent conservative follow-up treatment due to the minimal symptoms. The relationship of the disease with NF-2 and plexiform schwannoma is discussed.- - - - - - - - - - ranking = 0.2keywords = fibromatosis (Clic here for more details about this article) |
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