1/36. Linear epidermal nevus and nevus sebaceus syndromes: a clinicopathologic study of 3 patients.BACKGROUND: Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare. DESIGN: We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery. RESULTS: patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients. CONCLUSION: The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations.- - - - - - - - - - ranking = 1keywords = neurocutaneous syndrome, neurocutaneous, dysplasia (Clic here for more details about this article) |
2/36. Systematized porokeratotic eccrine and hair follicle naevus: report of a case and review of the literature.We report a unique case of a congenital keratinocytic naevus associated with severe alopecia, onychodysplasia and palmoplantar involvement in a 13-year-old girl. The lesions, consisting of scaly, spinous and verrucous papules and plaques, mainly followed Blaschko's lines and have remained unchanged since birth. The predominant histopathological picture was that of a column of parakeratosis overlying the eccrine ostia and hair follicles. This is the first case of a systematized keratinocytic naevus characterized by histopathology of eccrine and hair follicle porokeratosis and a widespread bilateral involvement. This may be a distinct entity to be included in the differential diagnosis of linear, hyperkeratotic dermatoses. We suggest its classification as systematized porokeratotic eccrine and hair follicle naevus.- - - - - - - - - - ranking = 0.00016298089971351keywords = dysplasia (Clic here for more details about this article) |
3/36. renal artery stenosis associated with epidermal nevus syndrome.Epidermal nevus syndrome is an unusual neurocutaneous disorder in which epidermal nevi are associated with abnormalities of the skeleton and central nervous system, including the eyes and somtimes the cardiovascular system. We treated a patient in whom the latter included renal artery stenosis. An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and microphthalmos. hypertension was diagnosed when the patient was 15 years old. The plasma renin activity (9.7 ng/ml/h) was elevated. Right renal artery stenosis was demonstrated by angiography, and the abdominal aorta was narrowed distal to the ostium of the superior mesenteric artery. The plasma renin activity in the right renal vein (16 ng/ml/h) was higher than contralaterally (10 ng/ml/h). Several cardiovascular manifestations have been reported as a complication of epidermal nevus syndrome. hypertension in an individual with epidermal nevi and congenital anomalies should prompt a search for a vascular anomaly.- - - - - - - - - - ranking = 0.19282814992794keywords = neurocutaneous (Clic here for more details about this article) |
4/36. Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report.The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome. An 8-year-old boy was admitted to the authors' hospital with progressive urinary disturbance and upper back pain. Multiple skin nevi had been noted at the child's birth. Radiological examination revealed multiple cavernous angiomas in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemisphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symptoms promptly improved. To the best of the authors' knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease.- - - - - - - - - - ranking = 0.19282814992794keywords = neurocutaneous (Clic here for more details about this article) |
5/36. CNS lipoma in patients with epidermal nevus syndrome.Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are caused by a wide range of neuropathological lesions. We describe three patients with ENS, all of whom had in addition to the characteristic features of ENS intracranial and/or intraspinal lipomas. In one patient the lipoma extended from the thoracal vertebra 8 to the 4th ventricle; in the second patient it was localized on T9, and in the third patient an intracranial lipoma was located at the right cerebellopontine angle. The intraspinal lipomas caused a significant spastic movement disorder. So far, CNS lipomas have not been described as typical neuropathological findings in ENS. The differential diagnosis to encephalocraniocutaneous lipomatosis with the typical finding of CNS lipoma is discussed.- - - - - - - - - - ranking = 0.19282814992794keywords = neurocutaneous (Clic here for more details about this article) |
6/36. Spinal AVM, epidermal nevus, and rhabdomyosarcoma: A rare neurocutaneous syndrome?A 26-year-old man with a history of an embryonal rhabdomyosarcoma arising from the urachus and a large, right-sided, epidermal nevus presented with a rapidly evolving tetraparesis. Investigations confirmed an intramedullary hemorrhage of the cervical spinal cord and an extensive arteriovenous malformation (AVM). An association between his nevus, rhabdomyosarcoma, and spinal AVM is hypothesized.- - - - - - - - - - ranking = 3.9986961528023keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
7/36. hair follicle nevus occurring in frontonasal dysplasia: an electron microscopic observation.We report a rare hair follicle nevus that occurred in a three-month-old Japanese boy with mild frontonasal dysplasia. It had been present since birth. Histologically, numerous tiny vellus hair follicles were found within the dermis. The constituent cells of these follicles showed the features of follicular germ cells under the electron microscope. The fibroblasts around the follicles were active and merged with the colloid substance. Many myofibroblasts were found in a collagenous stroma in the atrophic lesion of the frontonasal dysplasia.- - - - - - - - - - ranking = 0.00097788539828107keywords = dysplasia (Clic here for more details about this article) |
8/36. Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses.An infant with the linear nevus sebaceous syndrome also had new findings of porencephaly and nonfunctioning major cerebral venous sinuses. This infant is the first described with the syndrome to undergo angiographic study. Similar nonfunctioning major cerebral venous sinuses are seen in the sturge-weber syndrome. A leptomeningeal angioma recently was reported in a newborn with the linear nevus sebaceous syndrome. The central nervous system disturbances in this syndrome might be secondary to developmental vascular anomalies. Therefore, the linear nevus sebaceous syndrome exhibits important similarities to the Sturge-Weber variety of neurocutaneous syndrome.- - - - - - - - - - ranking = 0.99967403820057keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
9/36. Two cases of melanose neurocutanee with development of malignant melanoma: a microspectrophotometric and electron microscopic study.Two cases of neurocutaneous melanosis with development of malignant melanoma in the Japanese are presented. The first case was a 4-year-old boy in whom a retroperitoneal melanoma appeared with giant nevi, and cerebral and spinal melanosis. The second case was a 39-year-old man, in whom a primary leptomeningeal melanoma developed with leptomeningeal melanosis and smaller pigmented nevi. Microspectrophotometric and electron microscopic studies were made on the neoplastic and non-neoplastic melanotic tissues to elucidate the histogenesis of this rare disorder. Two different patterns of nuclear dna histograms, corresponding to melanosis and melanoma, were obtained by microspectrophotometry, Considerable variation in the ultrastructure of the melanocytes was seen by electron microscopy.- - - - - - - - - - ranking = 0.19282814992794keywords = neurocutaneous (Clic here for more details about this article) |
10/36. Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome.Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous manifestations characteristic of this process present from birth and multiple cerebral angiomas detected by magnetic resonance imaging. At age 1(1/2) months, the patient showed myoclonic seizures and complex partial seizures that were refractory to various antiepileptic regimens. At age 5 months, electroencephalograms (EEGs) showed continuous generalized slow spike-waves, predominantly in the right temporal region; however, EEGs normalized after induction of coma with intravenous midazolam. At age 13 months, the patient suffered from occasional seizures and slightly retarded psychomotor development. epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (e.g., sturge-weber syndrome) can compromise psychomotor development; thus, every effort should be made to control seizures.- - - - - - - - - - ranking = 1.1925021881285keywords = neurocutaneous syndrome, neurocutaneous (Clic here for more details about this article) |
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