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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Achromic nevus or nevus depigmentosus is a cutaneous abnormality consisting of a hypopigmented macular lesion which can present as circumscribed irregular, oval, or round or as a unilateral band or streak with a blocklike configuration or arranged along one or more Blaschko lines. When it is systematized, it is indistinguishable from hypomelanosis of Ito. Pigmentary anomalies along the lines of Blaschko can be associated with systemic features. For these reasons, 20 children, referred consecutively for evaluation of segmental, linear achromic nevus, were evaluated to define the incidence of associated abnormal systemic features. Extracutaneous abnormalities were present in 2 of 20 children (10%). The anomalies consisted of pes cavus ipsilateral to the hypopigmentation in one child and mental retardation, seizures, and hemihypertrophy in the second. This study confirms that achromic nevus, even when distributed along Blaschko lines, is commonly a benign lesion that is associated with systemic features in a small minority of cases.
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PMID:Segmental nevus depigmentosus: analysis of 20 patients. 1057 31

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in South America.
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PMID:Encephalocraniocutaneous lipomatosis: a new case report and review of the literature. 1065 2

We report here 38 Japanese patients with hemimegalencephaly collected by a national survey study. All the patients were sporadic. There was no familial occurrence or sex difference. Some patients had basic diseases: hypomelanosis of Ito in 3 cases and organic nevus syndromes in 8. Most patients had hemiparesis, and 11 were bed-ridden. All except for 3 patients had mental retardation, being profound in half of them. There was no correlation between the side of hemimegalencephaly and clinical symptoms. All patients had epileptic seizures, which first appeared within 24 hours after birth in 4 cases, within 7 days in 7, within a month in 2, within 6 months in 10, and within a year in 4. Antiepileptic drugs were not very effective for controlling seizures. In 7 patients, however, functional hemispherectomy resulted in seizure control and improved development. The patients whose epileptic symptom occurred earlier tended to be more severe in clinical symptoms.
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PMID:[Nation-wide survey on hemimegalencephaly in Japan]. 1082 78

Because clinical evidence suggests that Proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with Proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal.
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PMID:Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome. 1092 89

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.
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PMID:CNS lipoma in patients with epidermal nevus syndrome. 1107 Nov 40

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.
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PMID:Age-related changes of the MR appearance of CNS involvement in neurocutaneous melanosis complex. 1114 97

We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus. Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation. This association may be coincidental.
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PMID:Rubinstein-Taybi syndrome with epidermal nevus: a case report. 1120 68

Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital CNS disorders. Clinical presentations include seizures, paresis, mental retardation, and developmental delay. We report three cases with MR imaging and magnetoencephalography findings; one patient underwent ictal and interictal single photon emission CT. Both structural and functional imaging studies indicated that the frontal lobes had lesser involvement or were intact. One patient underwent hemispherectomy because of the medically intractable seizure. He remained seizure free with topiramate monotherapy.
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PMID:Neuroimaging features of epidermal nevus syndrome. 1291 49

We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the Sturge-Weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. Epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the Sturge-Weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.
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PMID:Encephalotrigeminal angiomatosis. 1496 51

Gustav Schimmelpenning was born in 1928 in Oldenburg (Germany). From 1971 until 1994 he was head of the Department of Psychiatry at the University of Kiel. In 1957, while training in neurology and psychiatry, he comprehensively described a case of sebaceous nevus involving the head, with ipsilateral ocular lesions including coloboma of the upper lid, increased density of cranial bones, epileptic seizures and mental retardation. He concluded that this combination of anomalies represented a new 'phacomatosis'. Subsequently this phenotype was reported by other authors under many different names, such as 'Schimmelpenning syndrome', 'Feuerstein-Mims syndrome', 'Schimmelpenning-Feuerstein-Mims syndrome', 'epidermal nevus syndrome', 'Solomon syndrome', 'linear sebaceous nevus syndrome', 'organoid nevus phacomatosis', or 'Jadassohn nevus phacomatosis'. As a consequence of this confusing terminology, Schimmelpenning syndrome even has two different OMIM entries (no. 163200 and no. 165630). The term 'Schimmelpenning syndrome' is both historically justified and practically sufficient to distinguish this phenotype from other epidermal nevus syndromes.
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PMID:Gustav Schimmelpenning and the syndrome bearing his name. 1531 59


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