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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The sebaceous nevus syndrome describes the rare association of a sebaceous nevus with systemic features such as mental retardation, seizures and colobomas (among others). It is thought to be a cutaneous mosaic inherited as a paradominant trait. Three cases are provided illustrating the intraoral manifestations of the syndrome. The first histological comparison of contiguous mucosal and cutaneous lesions is provided. We also describe the possible association of SFM syndrome with a benign fibrous histiocytic lesion of the mandible. This and other mandibular tumors associated with the sebaceous nevus syndrome may have significant implications for patients. Awareness of the potential presence or development of significant intraoral lesions in association with the sebaceous nevus syndrome is important for those involved in the care of patients with this syndrome.
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PMID:Intraoral lesions associated with sebaceous nevus syndrome. 1642 Mar 15

The epidermal nevus syndrome (ENS) is a rare neurocutaneous disease characterized by extensive epidermal nevi and a wide variety of abnormalities involving brain, eyes, and skeleton. Neurological symptoms in ENS include seizures, paresis, and mental retardation and are usually ascribed to hemimegalencephaly and various migration disorders. It was suggested that in some patients neurological symptoms might be secondary to vascular abnormalities. We report a case of a patient with diagnosed ENS without any primary CNS lesions, who developed paraplegia resulting from spinal cord hemorrhage. The patient presented many vascular and skeletal anomalies.
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PMID:Epidermal nevus syndrome and intraspinal hemorrhage. 1661 99

A male neonate with seizures, linear sebaceous nevus syndrome and hemimegalencephaly underwent hemispherectomy at 36 weeks' gestational age. He has had no clinical seizures in the 13 months since surgery but continues to have sharp wave activity over some parts of the intact hemisphere. He has moderate developmental delay and a mild hemiparesis but is making developmental progress.
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PMID:Hemispherectomy in a premature neonate with linear sebaceous nevus syndrome. 1823 Sep 33

Linear nevus sebaceous syndrome is reported to occur in as many as 1 in 1000 live births, and is hypothesized to result from genetic mosaicism involving a lethal autosomal-dominant gene. The terms "epidermal nevus syndrome" and "linear nevus sebaceous syndrome" are often used interchangeably, although linear nevus sebaceous syndrome more strictly applies to patients with a typical midline nevus, and epidermal nevus syndrome is a more inclusive term that includes all varieties of epidermal nevi. Linear nevus sebaceous syndrome encompasses a broad spectrum of abnormalities that may affect every organ system, including the central nervous system. In these cases, seizures and mental retardation are the main manifestations. Many other organ systems were also reported to be involved in this syndrome, including the cardiovascular, skeletal, ophthalmologic, and urogenital systems, among others. Although linear nevus sebaceous syndrome occurs at a relatively high frequency and may affect different organ systems, many physicians are unaware of the syndrome, which may delay diagnosis and treatment. We present two cases of linear nevus sebaceous syndrome, and we describe their initial presentation and subsequent evolution, incorporating a review of the current literature in this field.
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PMID:Linear nevus sebaceous syndrome: case reports and review of the literature. 1827 57

Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear sebaceous nevus syndrome has been traditionally known as the triad of sebaceous nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir-Torre syndrome is described as the presence of sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with sebaceous neoplasms for Muire-Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir-Torre syndrome.
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PMID:Sebaceous lesions and their associated syndromes: part II. 1975 80

The sebaceous nevus syndrome (SNS) is characterized by the presence of a sebaceous nevus and extracutaneous abnormalities, usually involving organs derived from the neuroectoderm. The authors report the case of a 22 year-old patient with a systematized sebaceous nevus on the forehead and scalp and a history of developmental delay and severe seizure disorders. The father of the patient also indicated prior surgery to correct an ocular coloboma and prior removal of a squamous cell epithelioma of the tongue. Firstly described by Gustav Schimmelpenning in 1957, SNS, also known as 'Schimmelpenning-Feuerstein-Mims syndrome', is one of the six different types of epidermal nevus syndromes. In patients with SNS the risk of developing neoplasms is higher than that of the general population. The particularity of our case lies in the late diagnosis. The authors believe that early diagnosis and awareness of the potential presence of neoplasms are important for those involved in the care of patients with SNS.
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PMID:A case of sebaceous nevus sindrome (Schimmelpen-ning-Feuerstein-Mims syndrome). 1983 40

A 3-year-old girl was diagnosed as having linear nevus sebaceous syndrome. The nevus sebaceous was located on the left side of the face and neck. An unusually large lacrimal gland was completely ectopic below the entire left conjunctiva, with secondary ectropion of the left upper eyelid. The patient had the unusual finding of dentigerous cysts in both maxillary sinuses. Computed tomography scan showed atrophy of the left cerebral hemisphere, accompanied by a history of seizures; furthermore, the patient was mentally retarded. This phenotypic pattern of linear nevus sebaceous syndrome is typical for patients with multiple associated abnormalities.
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PMID:Linear nevus sebaceous syndrome in a patient with atypical associated abnormalities. 2121 57

A newborn baby boy presented with giant melanocytic nevi on the face, trunk and extremities, and focal cortical dysplasia on MRI. At 3 months of age, he developed intractable epilepsy, and MRI at 2 years of age revealed a high-intensity area in the bilateral cerebellum on T1-weighted images, indicative of melanosis. Based on the findings of the skin and MRI, we diagnosed the boy with neurocutaneous melanosis. Cytodiagnosis of cerebrospinal fluid showed no malignancies. EEG, magnetoencephalogram and ECD-SPECT indicated that the clonic seizures originated from a focus in the right focal cortical dysplasia. Complications also included sebaceous nevus of the head and face, which was characteristic of sebaceous nevus syndrome, lipoma of the face and cauda equina, and limbal dermoid. Sebaceous nevus syndrome may have been due to certain allelic defects that were independent of those for neurocutaneous melanosis.
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PMID:[A case of neurocutaneous melanosis associated with focal cortical dysplasia]. 2180 Jun 95

The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported. Additionally, we performed a literature review using the search terms "epidermal nevus syndrome" and "hemimegalencephaly", including secondary sources of data such as reference lists of articles reviewed. We found 57 previously reported cases with the hemimegalencephalic variant of epidermal nevus syndrome, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/developmental delay, ocular/visual involvement, and facial abnormalities.
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PMID:Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review. 2220 May 38

A 12-year-old girl presented with extensive epidermal nevi, new onset seizures, mental retardation, and oral and ocular abnormalities. We briefly review the case and epidermal nevus syndrome (ENS), which is characterized by epidermal nevi occurring in conjunction with neurologic, ocular, skeletal, and/or other system involvement.
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PMID:Sebaceous nevus syndrome: a case report of a child with nevus sebaceus, mental retardation, seizures, and mucosal and ocular abnormalities. 2303 72


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