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At least 19 recordsLinked to original sources
PubMed2002

Neurocutaneous syndromes.

Neurocutaneous syndromes are congenital or hereditary conditions that have many features in common: hereditary transmission, involvement of organs of ectodermal origin (nervous system, eyeball, retina, and skin), slow evolution of lesions in childhood and adolescence, and disposition to fatal malignant transformation. Except for Sturge- Weber syndrome, these major neurocutaneous syndromes are genetically determined, although sporadic cases can occur. This article reviews the clinical features of the more common neurocutaneous syndromes, including tuberous sclerosis complex, neurofibromatosis, Sturge-Weber syndrome, Ehlers-Danlos syndrome, and von Hippel-Lindau disease.

Adolescent↗
PubMedDate not supplied

Neurocutaneous syndromes.

Neurocutaneous syndromes are progressive multisystem disorders in which the dermatological findings may be apparent before the neurological signs and symptoms appear. Timely diagnosis is important for early detection of serious complications such as malignancies, for prompt interventions for learning or developmental problems, and for genetic counseling.

Adult↗
PubMed2000

Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.

Brain↗
PubMed2000

Intra-cranial manifestations of the neurocutaneous syndromes.

The neurocutaneous syndromes or phakomatoses are a heterogeneous group of congenital disorders primarily involving structures derived from the embryological neuroectoderm. All of the syndromes involve the central nervous system (CNS). Peripheral nerves, skin and other organ systems may also be involved. Twenty to 30 disorders are now classified as neurocutaneous syndromes. This article reviews the intra-cranial imaging features of some of the commonest.

Adolescent↗
PubMed1993

Epilepsy in the setting of neurocutaneous syndromes.

The neurocutaneous syndromes are characterized by congenital dysplastic abnormalities involving the skin and nervous system. The commonest neurocutaneous syndromes manifesting epilepsy are tuberous sclerosis and the Sturge-Weber syndrome. Neurofibromatosis and other lesser-known entities, such as epidermal nevus syndrome, are also known to be accompanied by epilepsy. These syndromes are not related to one another. This article reviews what has been learned about the epileptic syndromes in these disorders.

Adolescent↗
PubMed2003

Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome.

The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated.(1) Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling. In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.

Atrophy↗
PubMed1981

Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome.

A neurocutaneous syndrome is described in which spastic paraplegia, peroneal neuropathy, and crural hypopigmentation are inherited in a dominant pattern. Spastic paraplegia becomes clinically apparent during adolescence or in childhood and progresses slowly throughout the adult years with a variability in severity of expression. Peroneal neuropathy is documented clinically and by slowing on nerve conduction studies. Pattern-reversal visual evoked potentials also yield a delayed response, but brainstem auditory evoked potentials and somatosensory evoked potentials in upper and lower extremities are normal. Crural hypopigmentation is present in each neurologically affected family member. Although the pattern may vary, a pretibial distribution predominates. The lower-extremity abnormalities of the central and peripheral nervous system and neural crest cell derivatives may share a common relationship, but the abnormal visual evoked potentials suggest a more generalized involvement. This family may represent a transition form between familial spastic paraplegia and the spinocerebellar degenerations.

Adult↗
PubMed1992

Lesions of skin and brain: modern imaging of the neurocutaneous syndromes.

The neurocutaneous syndromes, or phakomatoses, are a diverse group of disorders affecting the skin and CNS. This review highlights some important but lesser known aspects of the more common phakomatoses while concentrating on rarer and more recently discovered syndromes. The roles of newer imaging techniques such as contrast-enhanced MR imaging and three-dimensional CT in the evaluation of these disorders also are discussed.

Brain↗
PubMed1997

[Dyscromic neurocutaneous syndromes].

Discromic neurocutaneous syndromes are an heterogeneous group of genetic diseases which associate pigmentary anomalies to nervous system disturbances. Development of molecular biology has allowed a better understanding and classification of this diseases. In this article we review this entities with an emphasis on the last clinical and genetic discoveries.

Angiofibroma↗
PubMed1978

Neurocutaneous syndromes.

The neurocutaneous syndromes are a diverse group of diseases characterized by widespread abnormalities in structures of ectodermal origin, including the skin, eye, and central and peripheral nervous systems. These syndromes are particularly interesting to the clinician because they often present with cutaneous signs at birth or very early in life. These skin markers may be clues to widespread abnormality that may later develop in the nervous system and other areas of the body, making early diagnosis from careful assessment of cutaneous signs a particularly challenging task. Six of the most common of these syndromes are reviewed.

Ataxia Telangiectasia↗
PubMed2005

Neurocutaneous syndromes: behavioral features.

Neurocutaneous syndromes are disorders characterized by a neurological abnormality and cutaneous manifestations. Three of the more common neurocutaneous syndromes are Sturge-Weber syndrome, tuberous sclerosis, and neurofibromatosis. This review focuses on the cognitive and behavioral features of these syndromes.

Behavior↗
PubMed1999

Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients.

BACKGROUND: Silvery hair and severe dysfunction of the central nervous system (neuroectodermal melanolysosomal disease or Elejalde syndrome) characterize this rare autosomal recessive disease. Main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement (seizures, severe hypotonia, and mental retardation). Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. Differential diagnosis with Chédiak-Higashi syndrome and Griscelli syndrome must be done. OBSERVATIONS: We studied pediatric patients with silvery hair and profound neurologic dysfunction. Immune impairment was absent. Age of onset of neurologic signs ranged from 1 month to 11 years; the signs included severe muscular hypotonia, ocular alterations, and seizures. Mental retardation since the first months of life was noted in 4 cases. Psychomotor development was normal in 3 cases, but suddenly the patients presented with a regressive neurologic process. Four patients died between 6 months and 3 years after the onset of neurologic dysfunction. One patient showed characteristic ultrastructural findings of Elejalde syndrome. CONCLUSIONS: Elejalde syndrome is different from Chédiak-Higashi and Griscelli syndrome and is characterized by silvery hair and frequent occurrence of fatal neurologic alterations. Psychomotor impairment may have 2 forms of presentation: congenital or infantile. Although Elejalde syndrome and Griscelli syndrome are similar, the possibility that they are 2 different diseases, although probably allelic related, is suggested.

Central Nervous System Diseases↗
PubMed1983

[Clinical polymorphism of the neurocutaneous syndrome in children].

The incidence of the neurocutaneous syndrome in children with organic brain lesions of varying origin was studied. It was shown that in reviewing the structure of this syndrome (along with the other extensively described pathological forms, such as Recklinghausen's disease, tuberous sclerosis, Sturge-Weber disease, etc.), the neurocutaneous syndrome characterized by depigmented spots on the skin should be considered separately. The paper describes at full length the individual dermatoglyphic parameters and features of the neurological state of the patients suffering from the neurocutaneous syndrome with depigmented skin spots.

Adolescent↗
PubMed1984

Ocular manifestations of the neurocutaneous syndromes.

Ocular involvement occurs frequently in the disorders known as neurocutaneous syndromes or phakomatoses. Recognition of characteristic eye lesions in the context of related skin and systemic abnormalities may be crucial to making the diagnosis of a neurocutaneous syndrome. Ocular disease in these conditions may be the cause of serious morbidity, leading to blindness or disfigurement, but successful treatment is often possible. All clinicians involved in the care of patients with neurocutaneous syndromes should have some familiarity with their ophthalmologic aspects. This review deals with ocular manifestations of neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, ataxia telangiectasia, and Bloch-Sulzberger syndrome. Clinical signs and symptoms, differential diagnosis, and natural history are considered in detail, with brief discussion of pathophysiology and management. No specialized knowledge of eye disease in general is presumed.

Ataxia Telangiectasia↗
PubMed2003

[Cutaneous hemangiomas, vascular malformations and associated disorders. A new neurocutaneous syndrome].

OBJECTIVE: Cutaneous hemangiomas and vascular malformations constitute a systemic disease that is the most frequent of the neurocutaneous syndromes reported to date. It appears more frequently in women than in men. The aim of this study was to describe the characteristics of this new neurocutaneous syndrome. MATERIAL AND METHODS: We studied a large number of patients who presented cutaneous hemangiomas and/or vascular malformations located anywhere on the body. The patients underwent periodic clinical follow-up and imaging studies due to their aesthetic, functional and/or neurological problems. RESULTS: Clinical evaluation revealed a wide range in the size and severity of cutaneous vascular lesions and in their relationship with various internal anomalies, which were almost always located in the areas underlying the cutaneous vascular lesions. Those situated in the head, face, neck and chest were first discovered and are the best known. The most frequent findings were cerebellar malformations, persistence of the trigeminal artery, absence of the carotid or vertebral arteries and congenital heart disease. Many of the patients with this syndrome had mental retardation or borderline mental retardation. CONCLUSIONS: This disorder appears more frequently in females than in males. It is the most recently described neurocutaneous syndrome and is also the most prevalent. This syndrome is associated with numerous disorders that can be located in the areas underlying the cutaneous vascular lesions anywhere on the body. Cutaneous hemangiomas and subjacent hemangiomatous tumors, like other associated vascular abnormalities, can show a parallel, spontaneous increase or decrease in size without treatment. Complete occlusion of the vessels can occur while vascular malformations show no progression or involution. This new neurocutaneous syndrome is also known as Pascual-Castroviejo type II syndrome and PHACE.

Arteriovenous Malformations↗
PubMedDate not supplied

[Neurocutaneous syndromes and epilepsy. Report of 23 cases and review of the literature].

The neurocutaneous syndromes are characterized by congenital dysplastic abnormalities involving the skin and nervous system. We included in the study 23 children diagnosed with different types of neurocutaneous syndrome (10 patients with tuberous sclerosis, 5 with Sturge-Weber syndrome and 8 with neurofibromatosis type 1 and epilepsy'. The factors studied included: age at onset of seizures, seizure types and frequency, seizure response of treatment, EEG, CT/MRI, neurologic, neuro-ophthalmologic and psychological examination. In 39.13% of cases the epilepsy onset preceded the clinical diagnosis of neurocutaneous disorders. The age of seizure onset ranged from 4 month to 5 years. The most common type of seizure appear to be complex partial. 21.73% of patients associated mental retardation. Therapeutical efficacy was variable depending on type of seizure and type of neurocutaneous syndromes.

Adolescent↗
PubMed2005

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues. In the present report, we describe a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK syndrome). Using homozygosity mapping in two large families, we localized the disease gene to 22q11.2 and identified, in all patients, a 1-bp deletion in SNAP29, which codes for a SNARE protein involved in vesicle fusion. SNAP29 expression was decreased in the skin of the patients, resulting in abnormal maturation of lamellar granules and, as a consequence, in mislocation of epidermal lipids and proteases. These data underscore the importance of vesicle trafficking regulatory mechanisms for proper neuroectodermal differentiation.

Antigens, Polyomavirus Transforming↗