1/55. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/55. Leptomeningeal melanoma in childhood.BACKGROUND: Malignant melanoma (MM) is one of the least common types of childhood cancer, accounting for less than 1% of all pediatric malignancies. Neurocutaneous melanosis (NCM) is a rare phakomatosis consisting of congenital abnormal pigmentation of the skin and meninges. The meningeal lesions are particularly prone to malignant change. methods: The authors describe 5 patients with NCM and 1 with primary leptomeningeal melanoma (LMM) seen at 2 treatment centers in the north of england over a 13-year period (1984-1997). RESULTS: The clinical features, progress, radiological findings, and treatment of these patients are discussed. All six died within eight months of their diagnosis, illustrating the difficulties faced in treating patients with these conditions. The authors reviewed the published literature on NCM, concentrating on the various therapeutic strategies that have been tried. Very little consistency in approach was found. Malignant skin lesions in NCM may be less responsive than primary malignant melanoma, but the small number of patients with primary LMM or brain metastases of MM make comparisons with NCM difficult. The authors' own series illustrates well the piecemeal nature of therapy for patients with these rare conditions. CONCLUSIONS: The rate of incidence of MM melanoma in the U.K. is increasing, and it will represent an increasing proportion of the pediatric oncologist's workload. A consistent approach to the therapy of patients with metastatic MM and NCM is needed if we are to have any hope of offering more than palliative therapy to these children in the future.- - - - - - - - - - ranking = 0.041704175063315keywords = brain (Clic here for more details about this article) |
3/55. Leptomeningeal melanomatosis with multiple cutaneous pigmented nevi: tumor cell proliferation and malignant transformation in an autopsy case.We experienced a rare case of leptomeningeal melanomatosis. The proliferative activity and nuclear accumulation of p53 in this tumor were examined, since the relationship between this tumor type and growth has not yet been elucidated. A 33-year-old Japanese man was shown to have leptomeningeal melanomatosis with multiple cutaneous pigmented nevi. The autopsy findings showed the presence not only of benign diffuse melanosis of the leptomeninges but also of leptomeningeal melanomatosis in the subarachnoid space and brain parenchyma. In the brain parenchyma, the direct invasion of tumor cells from the subarachnoid space and Virchow-Robin spaces filled with melanoma cells were observed. Multiple hemorrhagic areas invaded by melanoma cells were also present. Immunohistochemical staining with a monoclonal antibody to melanoma cells showed positivity in the tumor cells. Proliferation analysis using the MIB-1 antibody demonstrated that the labeling index of tumor cells invading brain parenchyma (2.54%) was higher than that in other lesions of the inner (0.89%) and outer layer (0.76%) of the subarachnoid space. Nuclear accumulation of p53 protein was rarely seen in the tumor cells. We reported a case of leptomeningeal melanomatosis. Higher proliferative activity was found in invading cells of the brain parenchyma. Malignant transformation of the tumor did not appear to be associated with p53 gene mutation.- - - - - - - - - - ranking = 0.16681670025326keywords = brain (Clic here for more details about this article) |
4/55. Oncocytoma in melanocytoma of the spinal cord: case report.OBJECTIVE AND IMPORTANCE: Oncocytoma in the central nervous system is extremely unusual. The first reported example of oncocytoma in a melanocytoma of the spinal cord was successfully excised, and its pathological appearance is described. CLINICAL PRESENTATION: A 71-year-old woman presented with a 25-year history of back pain and myelographic evidence of a lumbar spinal cord mass. After declining surgical treatment for two decades, she elected eventually to have the mass excised. Preoperative magnetic resonance imaging revealed a large intraspinal mass that spanned spinal levels L3 through S1. TECHNIQUE: The mass was excised en bloc through posterior laminectomies, and histopathological analysis revealed a benign neoplasm composed predominantly of monotonous sheets of plump oncocytes. Electron microscopy confirmed that the cytoplasm of the oncocytes was packed full of mitochondria. Focal areas of the tumor contained spindle cells, with abundant intracytoplasmic granular deposits of brown melanin pigment that contained melanosomes. Positive Fontana-Masson, HMB-45, and S-100 staining confirmed the final diagnosis of melanocytoma, oncocytic variant. CONCLUSION: The first reported case of oncocytoma arising in spinal melanocytoma is described. After surgical excision, the patient recovered completely and has remained free of symptoms for 4 years.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/55. Age-related changes of the MR appearance of CNS involvement in neurocutaneous melanosis complex.We report a case of giant congenital melanocytic nevi (GCMN) at risk of developing neurocutaneous melanosis (NCM) with age-related changes observable on MRI of the brain. However, although the usefulness of MR imaging in NCM is well known, age-related changes on MRI have rarely been reported. The prevalence of positive MRI findings and prognosis in GCMN accompanied by epilepsy and/or mental retardation awaits clarification. This case report may suggest the importance of serial brain MRI in cases of GCMN in assessing the risk of NCM.- - - - - - - - - - ranking = 0.08340835012663keywords = brain (Clic here for more details about this article) |
6/55. Immunohistochemical detection of the c-met proto-oncogene product in the congenital melanocytic nevus of an infant with neurocutaneous melanosis.Transgenic mice overexpressing hepatocyte growth factor/scatter factor (HGF/SF) demonstrate extensive pigmented nevi in both skin and leptomeninges of the central nervous system resembling human neurocutaneous melanosis. We immunohistochemically detected HGF/SF receptor, Met, in a congenital nevus of an infant with neurocutaneous melanosis, indicating that deregulation of HGF/SF-Met signaling in the critical period of development may lead to this fatal syndrome.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/55. Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature.The nevus sebaceus syndrome (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling seizures. Despite the proneness of the dermal stigmata to eventually undergo neoplastic transformation, the malformative lesions of the central nervous system rarely evolve into frank tumors. We present the case of a 10-year-old girl with left-sided sebaceus nevi, ipsilateral enlargement of the skull, and a desmoplastic neuroepithelial tumor (DNET) in the right fronto-parietal area of the brain. The tumor was removed by surgery. Histologically, it corresponded to a mitotically active small-cell anaplastic astrocytoma with genuine desmoplasia. Investigative methods included immunohistochemical positivity for glial fibrillary acidic protein, lack of expression of neuronal markers, and ultrastructural documentation of sheaths of basal lamina and collagen around tumor cells. A survey of the literature of brain tumors associated with NSS revealed two cases of histologically verified pilocytic astrocytomas, and one each of a choroid plexus papilloma, a mixed glioma, and a meningioma, as well as a subependymal giant cell astrocytoma--the latter possibly in an overlap syndrome of NSS and tuberous sclerosis. We hypothesize that the tumor described herein, one involving both atypical differentiation and enhanced growth potential, is paradigmatic of neuropathological events to be expected in the NSS.- - - - - - - - - - ranking = 1.0834083501266keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
8/55. Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes.The epidermal naevus syndrome is a neurocutaneous syndrome characterised by the association of epidermal naevi with central nervous system, skeletal, ocular or cardiovascular abnormalities. We report on a 1.75-year-old boy who presented with spastic diparesis, a partial paresis of the left forearm and macrocephaly. He had a large epidermal naevus along the cervical spine and a segmental hypermelanosis. MRI studies revealed a large intraspinal mass extending from the lower cervical to the upper thoracic spine. The condition of our patient demonstrates the overlap of the epidermal naevus syndrome with well-defined mosaic neuroectodermal phenotypes such as encephalocraniocutaneous lipomatosis, Feuerstein-Mims syndrome and proteus syndrome. Conclusion: we recommend evaluation of all patients with large epidermal naevi, especially in the head and neck region, for the presence of central nervous system abnormalities or neoplasms.- - - - - - - - - - ranking = 2keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/55. Cerebral mass due to neurocutaneous melanosis: eight years later.Neurocutaneous melanosis (NCM) is associated most commonly with giant congenital melanocytic nevi (CMN), in particular those on the scalp or in a posterior axial location that are accompanied by satellite congenital nevi. It also can occur in patients with multiple medium-sized CMN. In general, the prognosis of those with symptomatic NCM is poor, even in the absence of malignancy, while the prognosis of those with asymptomatic NCM detected via screening varies and is more difficult to predict. Herein we report an asymptomatic patient with a giant CMN and multiple satellite nevi who had a screening magnetic resonance imaging (MRI) study at age 5 months that showed a rounded area of increased signal in the right temporal lobe on T1-weighted images, suggestive of parenchymal melanosis. This melanotic mass was resected at age 10 months, and histologic examination of the surgical specimen showed prominent perivascular collections of benign, pigment-containing melanocytes within cerebral tissue. The patient remains healthy 8 years later. His excellent long-term outcome and other reports of NCM with localized central nervous system (CNS) involvement apparent on MRI may have implications for management, including early imaging of patients with high-risk CMN and potential surgical intervention for NCM.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/55. Neurocutaneous melanosis with malignant leptomeningeal melanoma. A case with metastases outside the nervous system.A case of neurocutaneous melanosis with malignant leptomeningeal melanoma was seen in a black man. The presence of extracranial metastases was noted, and evidence is presented favoring the central nervous system as the primary source.- - - - - - - - - - ranking = 1.9755851007325keywords = central nervous system, nervous system (Clic here for more details about this article) |
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