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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurocutaneous melanosis is a rare congenital phacomatosis characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant pigmented cell tumors of the leptomeninges. A 14-month-old boy was admitted with a recent history of vomiting and drowsiness. He was found to have multiple congenital melanocytic nevi. Gd-enhanced MRI showed ventriculomegaly and leptomeningeal enhancement in the ambient cistern. CSF cytology revealed abnormal cells with pigmented granules. A diagnosis of hydrocephalus with malignant neurocutaneous melanosis was made. The patient was treated with combination chemotherapy (DAV therapy, ACNU intrathecal perfusion therapy, interferon beta therapy) while controlling intracranial pressure by CSF drainage, but in spite of treatment he died due to rapid progression of leptomeningeal infiltration. Postmortem examination revealed meningeal malignant melanomas predominantly at the base of the brain and benign meningeal melanosis over the cerebral cortex. Newborn infants or infants with large or multiple congenital melanocytic nevi should be carefully followed, especially for the first two years. When hydrocephalus or convulsions occur in patients with skin lesions, Cd-enhanced-MRI and careful CSF cytology studies should be performed to detect meningeal abnormalities.
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PMID:[Neurocutaneous melanosis--a case report]. 819 43

The case of a 42-year-old Sudanese man is reported who had developed hyperpigmentation of the left face and rapidly progressive right hemiparesis followed by myoclonus at the age of 30. Blue-grey hyperpigmentation was noted in the territory of the left ophthalmic, maxillary and mandibular trigeminal nerve branches, with alopecia of the right face and axilla. CT of the brain revealed left-sided paraventricular calcifications and MRI showed atrophy of the left cerebral hemisphere and mesencephalon, a calcified haemangioma in the left basal ganglia, an old infarct in the right central pons, and cerebellar atrophy. This case resembles Ota's syndrome; however, atypical distribution of the facial nevus, the epidermal location of hyperpigmentation, and the combination of vascular and degenerative cerebral malformations indicate that this is a new hitherto unreported neurocutaneous vascular syndrome.
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PMID:A new neurocutaneous syndrome possibly related to Ota's nevus. 822 56

A 20-year-old woman with myelomeningocele presented with acute right-ear pain and right hemiplegia which improved, but then progressively deteriorated. Surgery, after MRI, revealed a large arteriovenous malformation (AVM) involving the right side of the upper cervical cord and brainstem. The woman also had two epidermal nevi at the same site as the spinal cord AVMs. There has been no previous report of an association of myelomeningocele, spinal cord AVMs and epidermal nevi syndrome. The same location of the nevus and spinal cord AVMs, with a proposed common pathogenesis, raise the possibility that the association may be more than chance occurrence. Spinal cord AVMs should be considered in patients with myelomeningocele and similar clinical features.
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PMID:Myelomeningocele, spinal arteriovenous malformations and epidermal nevi syndrome: a possible rare association? 833 63

We report five cases presenting with soft tissue and bone overgrowth that demonstrate the ability of MRI to establish a diagnosis in the absence of specific clinical features. Disorders included macrodystrophia lipomatosa, angiolipomatosis, Klippel-Trenaunay-Weber syndrome, blue rubber bleb naevus syndrome and one case of segmental limited hypertrophy. The MRI appearances, and other radiological features of these conditions are discussed. MRI is recommended in all cases of macrodystrophy when the clinical features and plain film findings are indeterminate.
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PMID:Magnetic resonance imaging in macromelia and macrodactyly. 875 51

Klippel-Trenaunay syndrome (KTS) is a congenital vascular abnormality consisting of a cutaneous naevus, varicose veins and bone and soft-tissue hypertrophy affecting one or more limbs. A case is presented here with some unusual associated findings seen on MR that, to the best of the authors' knowledge, has not been reported in the literature. Although colour Doppler in addition to venography is frequently used in demonstration of the KT vein, MRI may well have an important role in complete assessment.
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PMID:Klippel-Trenaunay syndrome: unusual magnetic resonance features. 950 16

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. On MRI, the most characteristic finding has been reported to be leptomeningeal enhancement, believed to represent leakage of contrast medium through the anomalous pial vessels that characterize the disease. We present a case of SWS with no evidence of leptomeningeal enhancement. This case illustrates that leptomeningeal enhancement need not be present in SWS, and the absence of this characteristic finding does not preclude the diagnosis.
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PMID:Sturge-Weber syndrome with no leptomeningeal enhancement on MRI. 956 24

A 5-day-old male infant with leptomeningeal angiomatosis accompanied by hair follicle nevus and congenital alopecia is reported. Admitted for frequent left hemiconvulsions, he had three small papular lesions around his right eye and ipsilateral alopecia from the frontal to parietal areas. Histopathological examination of the papular lesions revealed crowding of hair follicles. There were no other skin lesions and no ophthalmic abnormalities. Ictal EEG showed a theta burst in the right parietal area. Computed tomography of the brain revealed cerebral atrophy and a slightly high intensity lesion in the right parietal and occipital lobes with calcification. Gyriform enhancement was demonstrated by contrast MRI in these areas. The pathogenesis is discussed. This case may represent a previously unknown neurocutaneous syndrome.
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PMID:Leptomeningeal angiomatosis accompanied by hair follicle nevus. 966 Jan 27

The intra-individual and inter-individual variations of the global N-acetylaspartate (NAA) concentration were measured in a cohort of five 42+/-5 year-old normal females. The total NAA signal from the whole head was obtained with non-localized non-echo proton spectroscopy (1H-MRS) and converted into absolute mole amounts using phantom replacement. Since NAA is assumed to be present only in neurons, its concentration was obtained by dividing these mole amounts with the brains' volume, calculated from high resolution MRI. The key feature of the procedure is its near-complete suppression of the intense subcutaneous and bone marrow lipids' signals, whose chemical shifts neighbor and underlay the NAA. This was achieved by exploiting the lipids' much shorter T1s, compared to that of NAA, for destructive interference of their signals in co-addition following alternating, nonselective 180 degrees inversions. The average global, inter-individual NAA concentration in that group was found to be 10.63 mM with a 95% confidence interval of 10.43-10.82 mM.
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PMID:Total brain N-acetylaspartate concentration in normal, age-grouped females: quantitation with non-echo proton NMR spectroscopy. 979 50

We report a 34-year-old woman with linear sebaceous nevus syndrome and dolichomegalic artery. The patient was admitted to our hospital for evaluation of a headache and fever. Neurological examination revealed no focal sign except neck stiffness. She had had sebaceous nevi on the left side of her head, cheek and neck since she was born. A cranial CT scan showed high signal intensity in the subarachnoid space. Cranial MRI showed a dolichomegalic artery. The patient's past history included many episodes of headache and fever since her first decade of life and she had been diagnosed five times with cerebrovascular disease. At the present admission, subarachnoid hemorrhage was diagnosed and treated. The patient improved and was discharged on the 21st day. Linear sebaceous nevi are associated with many types of anomalies, but we found no other reported cases of linear sebaceous nevus syndrome associated with a cerebrovascular anomaly. This case suggests that a patient with sebaceous nevi who presents with headache and fever should be examined with careful attention to the cerebrovascular system.
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PMID:[A case of linear sebaceous nevus syndrome associated with a cerebrovascular anomaly]. 980 99

The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.
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PMID:Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature. 1004 4


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