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Síndrome neurocutânea com epilepsia
ORPHA:166466DOENÇA RARA

Condição rara que afeta pele e sistema nervoso, manifestando-se com lesões cutâneas características e crises epilépticas de difícil controle. Pode envolver outros órgãos, exigindo acompanhamento multidisciplinar.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 04/06/2026Revisão médica pendente
Informacoes curadas por IA — podem conter imprecisoes

Visão geral

A Síndrome neurocutânea com epilepsia é uma condição rara que afeta o sistema nervoso e a pele. Ela faz parte de um grupo de doenças chamadas neurocutâneas, que se caracterizam por manifestações tanto neurológicas quanto cutâneas. A epilepsia (crises convulsivas) é um dos principais sintomas. Ainda não há dados disponíveis sobre sua prevalência, herança genética ou idade de início típica.[1]

Sinais e sintomas

Os sintomas mais comuns incluem crises epilépticas (convulsões) e alterações na pele, como manchas ou lesões. No entanto, a lista completa de fenótipos (sinais e sintomas) ainda não foi detalhada em fontes oficiais disponíveis. É importante que qualquer pessoa com suspeita dessa síndrome seja avaliada por um médico especialista.[1]

Causas genéticas

Até o momento, não há genes específicos identificados como causa direta da Síndrome neurocutânea com epilepsia. A condição é reconhecida como uma entidade clínica, mas a base genética ainda não foi estabelecida em fontes oficiais como Orphanet ou GenCC.[1][2]

Diagnóstico

O diagnóstico é clínico, baseado na presença de epilepsia associada a manifestações cutâneas típicas. Não há testes genéticos validados ou variantes registradas no ClinVar para essa síndrome. Exames de imagem e eletroencefalograma (EEG) podem auxiliar na avaliação neurológica.[1][2]

Tratamento e manejo

O tratamento é focado no controle das crises epilépticas e no manejo das manifestações cutâneas. Não há um protocolo específico para esta síndrome, e as opções terapêuticas são baseadas no tratamento da epilepsia em geral. Medicamentos como ácido aminohidroxibutírico, diclofenamida, etossuximida, felbamato, fosfenitoína, lamotrigina, metarbital, fenacemida, piridoxal, stiripentol, topiramato, ácido valproico, valpromida e zonisamida são citados em bases de dados como possíveis opções, mas não há recomendação de dose ou indicação formal para esta condição específica. O acompanhamento deve ser multidisciplinar, com neurologista e dermatologista.[1]

Tratamentos citados na literatura

Não há tratamentos específicos citados na literatura científica (PubTator3) para esta síndrome. A lista de fármacos disponível (como lamotrigina, topiramato, ácido valproico, entre outros) é baseada em associações gerais com epilepsia, e não em estudos direcionados a esta condição rara. Portanto, nenhum medicamento pode ser recomendado como tratamento específico para a Síndrome neurocutânea com epilepsia com base em evidências literárias atuais.[1]

Prognóstico e qualidade de vida

Não há informações oficiais sobre o prognóstico ou a qualidade de vida para pessoas com Síndrome neurocutânea com epilepsia. O curso da doença pode variar amplamente dependendo da gravidade das crises epilépticas e das lesões cutâneas. O acompanhamento médico regular é essencial para monitorar a evolução e ajustar o tratamento.[1]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

A **síndrome neurocutânea com epilepsia** reúne condições raras em que ocorrem alterações neurológicas e da pele acompanhadas de crises convulsivas. Por se tratar de uma categoria ampla, os sinais observados pela família variam conforme a doença neurocutânea específica diagnosticada. Medicamentos anticonvulsivantes como a **lamotrigina** contam com registro sanitário na ANVISA para comercialização no Brasil. No entanto, esta condição geral não possui Protocolo Clínico e Diretrizes Terapêuticas (PCDT) próprio na lista oficial de doenças raras do Ministério da Saúde.

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Informacoes curadas por IA — podem conter imprecisoes

Condição rara que afeta pele e sistema nervoso, manifestando-se com lesões cutâneas características e crises epilépticas de difícil controle. Pode envolver outros órgãos, exigindo acompanhamento multidisciplinar.

Medicamentos
11 com registro
LAMOTRIGINA, LAMITOR CD, FORLUT

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✓ 11 medicamentos específicos desta doença (registro ANVISA, FDA ou SUS/CEAF)
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LAMOTRIGINALAMITOR CDFORLUTLAMOSYN CDLAMEZNEPILL�PTICOLAMICTAL
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SUS: Cobertura parcialScore: 30%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

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Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025103 papers
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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome neurocutânea com epilepsia

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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Tuberous sclerosis complex.

Nature reviews. Disease primers2026 Mar 12

Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.

#2

Etiology of Infantile Epileptic Spasms Syndrome and Clinical Response With Vigabatrin as the First Treatment.

Pediatric neurology2026 Mar

Etiology is an important predictor for treatment outcomes of infantile epileptic spasms syndrome (IESS). In Thailand, vigabatrin (VGB) is the first-line treatment for all patients due to the unavailability of adrenocorticotropic hormone. We aimed to determine the etiology of IESS using the 2017 International League Against Epilepsy classification and evaluate the clinical response of VGB as a first-line treatment. A retrospective cohort study was conducted on IESS-diagnosed patients between January 2013 and December 2022. Etiology was categorized per the 2017 International League Against Epilepsy classification. Clinical outcomes were assessed at days 14-42 and one year after treatment. We included 191 IESS patients (57.6% males). Etiology was identified in 75.4% (structural 61.2%: 48.1% with nontuberous sclerosis complex [non-TSC] and 13.1% with TSC; genetic, 6.3%; infectious, 6.3%; and metabolic, 1.6%). Among the 163 patients who received VGB as first-line treatment, 50 (30.7%) achieved clinical cessation of epileptic spasms at days 14-42, and 44 patients (27.0%) had sustained freedom of epileptic spasms at one year. Patients with TSC etiology were more likely to achieve cessation of epileptic spasms at day 14-42 after treatment (adjusted OR 3.548, 95% confidence interval 1.193, 10.550, P = 0.023). Definite developmental delay at spasm diagnosis decreased the odds of sustained clinical freedom from epileptic spasms at one year (adjusted OR 0.26, 95% confidence interval 0.09, 0.74, P = 0.012). The etiology of IESS was identified in 75%. VGB was most effective as first-line, short-term treatment in TSC patients, and one-year treatment in children with normal development at diagnosis of IESS.

#3

Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.

Italian journal of pediatrics2026 Jan 10

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by pathogenic variants in TSC1 or TSC2, affecting approximately 1 in 6,000 live births. Diagnosis can be established genetically or clinically based on characteristic neurocutaneous, renal, and cardiac findings. Epilepsy occurs in up to 90% of individuals, with a wide spectrum of seizure types, including epileptic spasms and focal seizures, often evolving into Lennox–Gastaut syndrome. We describe two pediatric cases with genetically confirmed TSC who presented with prolonged, stereotyped episodes of retching and vomiting as the initial clinical manifestation. Brain MRI and long-term video-EEG monitoring were performed to investigate the neurological origin of these symptoms. In one patient, video-EEG recordings demonstrated an ictal pattern temporally correlated with the vomiting episodes, confirming their epileptic nature. In the other, although no episodes were captured during monitoring, the interictal EEG revealed both synchronous and asynchronous epileptiform discharges in the bilateral frontal regions, supporting a possible epileptic basis. To our knowledge, these represent the first reported cases of ictal vomiting as the initial seizure manifestation in TSC. These cases emphasize the need to consider recurrent, stereotyped gastrointestinal symptoms as potential ictal phenomena, particularly in individuals with TSC who are at high risk for epilepsy. Early and prolonged electroencephalographic monitoring may be crucial for timely recognition and appropriate management.

#4

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.

Clinical genetics2026 Apr

We conducted a retrospective chart review of 142 patients with tuberous sclerosis complex (TSC) seen in a multidisciplinary clinic between 2008 and 2023 to describe patients' clinical and genetic characteristics, disease severity, therapy, and genetic variations. The most common manifestations of TSC were neurological, dermatological, and renal involvements. Among 100 patients who underwent genetic testing, 26% and 62% were positive for TSC1 and TSC2 variants, respectively, and 12% had no pathogenic variant identified. Specific disease-causing variants in the TSC gene were characterized in 62.0% of patients. As shown in previous studies, patients in our cohort carrying TSC2 variants tended to have more severe and earlier onset symptoms, including higher rates of skin and renal involvement, infantile spasms, and TSC-associated neuropsychiatric disorders. We also identified two distinct clinical subgroups: one characterized by predominant renal involvement and the other by more pronounced neurological manifestations. These groups seem to follow different disease courses, suggesting potential for more personalized monitoring and treatment approaches. Our study revealed key differences between TSC patients with TSC1 and TSC2 variants, but the retrospective analysis warrants further research to identify early indicators predicting TSC disease course.

#5

NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Jan

The primary neurological manifestations of tuberous sclerosis complex (TSC) are intractable epilepsy and intellectual impairment. Current treatment outcomes remain limited. Investigating the role of the epigenetic long non-coding RNA NEAT1 in TSC-related epilepsy and cognition is essential. RNA sequencing analysis of clinical tissue samples revealed that NEAT1 is differentially expressed in epileptogenic versus non-epileptogenic tubers and enriched in the PI3K-AKT signaling pathway. To prove and further investigate the functional role suggested by the earlier transcriptomic and pathway enrichment analyses, NEAT1-overexpression and NEAT1-knockdown TSC2 conditional knockout (CKO) mouse models, as well as TSC2-KO cell models, are established. In vivo experiments demonstrated that NEAT1 knockdown reduced seizure frequency and improved spatial learning and working memory. Cellular analyses in TSC model further revealed that NEAT1 significantly regulates the PI3K/AKT/mTOR signaling pathway, neurotransmitter receptor balance, and outward potassium currents. Specifically, NEAT1 overexpression excessively activated the mTORC1 signaling, leading to changes in 4E-BP1 and S6K and abnormal cell proliferation. Moreover, NEAT1 overexpression contributed to an imbalance in excitatory neurotransmitter receptors and outward potassium currents, resulting in neuronal hyperexcitability, whereas NEAT1 knockdown has the opposite effect. This study provides new insights into the transcriptional regulation of TSC-related epilepsy, highlighting the therapeutic potential of NEAT1.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 199

2026

Tuberous sclerosis complex.

Nature reviews. Disease primers
2026

Modulation of EEG Background Rhythms in Sturge-Weber Syndrome: Impact of Surgical Timing on the Unaffected Hemisphere.

Journal of central nervous system disease
2026

Pulmonary artery aneurysm and tuberous sclerosis: case report.

Einstein (Sao Paulo, Brazil)
2025

Clinical profiles of tuberous sclerosis complex: A regionally based survey.

Brain & development
2026

TSC-associated microglial hyperactivity: enhanced calcium signaling, metabolism, and phagocytosis.

Acta neuropathologica
2026

Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex.

BMC psychiatry
2026

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

G Protein-Coupled Receptor 32 Contributes to Inflammation Resolution and Neuronal Excitability Dysfunction in Patients With Focal Cortical Dysplasia IIb and Tuberous Sclerosis Complex.

Neuropathology and applied neurobiology
2026

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion.

Clinical case reports
2026

Etiology of Infantile Epileptic Spasms Syndrome and Clinical Response With Vigabatrin as the First Treatment.

Pediatric neurology
2026

Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.

Italian journal of pediatrics
2025

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.

Medicina (Kaunas, Lithuania)
2025

Clinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome.

Journal of magnetic resonance imaging : JMRI
2026

The correlation between tuber burden and epilepsy onset in children with tuberous sclerosis complex.

Seizure
2026

Daily Care Concerns Among Mothers of Children With Developmental and Epileptic Encephalopathies: A Qualitative Study Using In-Depth Interviews.

Child: care, health and development
2025

Phacomatosis Pigmentovascularis and Sturge-Weber Syndrome: Comparative Outcomes of Primary Combined Trabeculotomy with Trabeculectomy.

Ophthalmology. Glaucoma
2025

Type 3 Sturge-Weber Syndrome Presenting With Concurrent Epilepsy and Migraine.

Cureus
2026

Clinical outcomes following stereotactic MRI-guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy.

Epilepsia
2025

Not Just a Birthmark: A Case Report of a Subtle Port-Wine Stain Heralding Sturge-Weber Syndrome.

Cureus
2026

Altered somatostatin receptor 3 expression and functional dysregulation in tuberous sclerosis complex.

Progress in neurobiology
2026

Decoding Meningioangiomatosis: A Century of Insights into Molecular Mechanisms, Clinical Dilemmas, and Therapeutic Innovations.

World neurosurgery
2025

Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.

Orphanet journal of rare diseases
2026

Cortical hypertrophy of the contralateral hemisphere after hemispherotomy in children with Sturge-Weber syndrome: A longitudinal volumetric study.

Epilepsia
2026

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex.

Epilepsia
2025

Evolution in the use of epilepsy surgery in tuberous sclerosis complex. Analysis of the Pediatric Health Information System over two decades.

Seizure
2026

Unraveling the microRNA mosaic: mechanisms and implications in focal cortical neurodevelopmental disorders.

International journal of surgery (London, England)
2025

Tuberous Sclerosis Complex Associated with Hypothyroidism: A Case Report.

Neurology India
2025

Sturge-Weber Syndrome Without Cutaneous Stigmata Versus Encephalocraniocutaneous Lipomatosis Without Craniocutaneous Lipomatosis: A Case Report.

WMJ : official publication of the State Medical Society of Wisconsin
2025

[Neurocutaneous melanosis in children caused by NRAS gene variation: a clinicopathological and molecular genetic analysis of three cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2025

Real-world efficacy and safety of cannabidiol in developmental and epileptic encephalopathies.

Epilepsia open
2026

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.

Clinical genetics
2025

Relationship between cortical tuber subtypes and interictal epileptiform discharges in tuberous sclerosis complex: MRI and scalp-EEG study.

Seizure
2025

Efficacy and safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis.

Seizure
2025

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Developmental and epileptic encephalopathies: From current care to future perspectives - insights from epilepsy centres in Lombardy, Italy.

Epilepsy & behavior : E&B
2025

Resective Surgery for Drug-Resistant Epilepsy in Patients With Tuberous Sclerosis Complex: A Prospective Nationwide Multicenter Cohort Study.

Neurology
2026

NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Neurodevelopmental Outcomes From the PREVeNT Trial.

Pediatric neurology
2025

Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia.

Acta neuropathologica communications
2025

Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.

Frontiers in neurology
2026

Spectrum of epileptogenicity in different cortical tuber radiological subtypes: A stereoelectroencephalographic study.

Epilepsia
2025

[Low Abuse Potential of Plant-Derived Highly Purified Cannabidiol: A Narrative Review].

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan
2025

Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

Unmet needs and challenges faced by caregivers in tuberous sclerosis complex: An integrative review.

Epilepsy & behavior : E&B
2025

Cutaneous manifestations-associated with tuberous sclerosis complex and the use of topical rapamycin in the United States: a sub-analysis of an international survey of caregivers and patients.

Orphanet journal of rare diseases
2025

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

American journal on intellectual and developmental disabilities
2025

[The value of simultaneous 18F-FDG PET/MR in detecting intracranial tubers in tuberous sclerosis complex patients with epilepsy and imaging-related factors associated with the presence of tubers in the epileptogenic zone].

Zhonghua yi xue za zhi
2025

Prospective study of safety, immunogenicity, and efficacy of inactivated COVID-19 vaccine in tuberous sclerosis complex children on sirolimus.

Human vaccines & immunotherapeutics
2025

ILAE neuroimaging task force highlight: Tuberous sclerosis complex-related epilepsy.

Epileptic disorders : international epilepsy journal with videotape
2025

Neurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndrome.

Seizure
2025

Differences in the neuropsychological profiles of high-functioning TSC adults with and without epilepsy.

Seizure
2025

Hemispherotomy for drug-resistant epilepsy in bilateral Sturge-Weber syndrome: illustrative cases.

Journal of neurosurgery. Case lessons
2025

Epilepsy Surgery in Tuberous Sclerosis Complex: A TSC Natural History Database Study.

Pediatric neurology
2025

Fast-Sequence Limited Magnetic Resonance Imaging Brain Protocol for Surveillance for Subependymal Lesions and Associated Hydrocephalus in Pediatric Tuberous Sclerosis Complex.

Pediatric neurology
2025

Nuclear neuroimaging in childhood epilepsy syndromes: A systematic review.

Epilepsy & behavior : E&B
2025

Long-term efficacy and safety of cannabidiol in patients with treatment-resistant focal epilepsies treated in the Expanded Access Program.

Epilepsia
2025

Successful Treatment of Growing Renal Angiomyolipomas With Low-Dose Everolimus in a School-Aged Child With Tuberous Sclerosis Complex.

Nephrology (Carlton, Vic.)
2026

Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study.

Journal of child neurology
2025

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Orphanet journal of rare diseases
2025

Leptomeningeal metastasis with sturge-weber syndrome-like gyriform calcification on imaging: a case report.

BMC neurology
2025

A diagnostic approach to neurocutaneous syndromes.

Arquivos de neuro-psiquiatria
2025

Pediatric refractory epilepsy related to tuberous sclerosis complex: A retrospective-cohort study of diagnosis and treatment.

Seizure
2025

Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings.

Brain & development
2025

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation.

Stem cell research
2025

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).

Orphanet journal of rare diseases
2025

Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

PloS one
2025

HMGB1 mediates inflammation response of epileptogenicity in tuberous sclerosis complex-related epilepsy.

Science progress
2025

[Features of brain involvement in patients with type 1 neurofibromatosis in the Republic of Bashkortostan].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Minimal invasive vertical hemispherotomy in a 2.5-month-old infant with hemispheric Sturge-Weber Syndrome and recurrent status epilepticus using neuronavigation and augmented reality support.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

[Surgical treatment of epilepsy associated with tuberous sclerosis in children: a single-center retrospective study].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

Neurocutaneous features of tuberous sclerosis complex: A case report from Bangladesh.

Medicine
2025

Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex.

EBioMedicine
2025

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.

Journal of child neurology
2025

Functional hemispherectomy for seizure control in encephalocraniocutaneous lipomatosis: illustrative case.

Journal of neurosurgery. Case lessons
2025

Anti-seizure medication is a minor causative factor in behavioral problems of children with tuberous sclerosis complex.

Epilepsy & behavior : E&B
2025

Adult Presentation of Dyke-Davidoff-Masson Syndrome, a Radiological Enigma: A Case Report.

Case reports in radiology
2025

Sturge-Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management.

Journal of clinical medicine
2025

Epilepsy surgery outcomes in children with tuberous sclerosis complex: a systematic review and meta-analysis.

Journal of neurosurgery. Pediatrics
2025

Tuberous Sclerosis Complex: An updated in the treatment of epilepsy for early careers.

Epilepsy & behavior : E&B
2025

Improved pre-surgical localization of epileptogenic tubers in pediatric tuberous sclerosis complex using mean apparent propagator MRI.

Neurosurgical review
2025

Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL).

BMJ case reports
2025

Triple pathology in a patient with uncontrolled epilepsy: a case report.

Journal of medical case reports
2025

Isolated leptomeningeal angiomatosis in Sturge-weber syndrome type III: A case report with distinctive neuroimaging features.

Radiology case reports
2025

Hippocampal sclerosis in association with Sturge-weber syndrome: An intertwining of 2 epileptogenic lesions.

Radiology case reports
2025

Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.

European journal of medical genetics
2025

Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience.

Epilepsia
2025

Characterization of immune cell profiles in the blood of children and adults with tuberous sclerosis complex disease.

Journal of the neurological sciences
2025

Cognitive and neuro-psychiatric profile in adult patients with epilepsy secondary to Tuberous Sclerosis Complex.

Epilepsy & behavior : E&B
2025

Interictal discharges spread along local recurrent networks between tubers and surrounding cortex.

The Journal of physiology
2025

Unusual fundus lesion in mosaic neurofibromatosis type 2.

Ophthalmic genetics
2025

Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016-2022.

Journal of intellectual disability research : JIDR
2025

Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex.

Neuropediatrics
2025

Prognostic application of lesion network mapping to epilepsy surgery outcomes in pediatric tuberous sclerosis complex.

Epilepsia
2025

TSC2 loss in neural progenitor cells suppresses mRNA translation of neurodevelopmental genes.

Brain : a journal of neurology
2025

Surgical treatment of subependymal giant cell astrocytoma in patients with tuberous sclerosis complex-an institutional experience and results.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

The clinical interface of tuberous sclerosis complex and autism spectrum disorder: insights and future directions.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Phenotypic clustering in tuberous sclerosis complex reveals four distinct disease trajectories.

Brain : a journal of neurology
2025

Epilepsy surgery in patients with Sturge-Weber Syndrome.

Epilepsy & behavior : E&B
2025

Behavioral analyses in rodent models of tuberous sclerosis complex.

Epilepsy & behavior : E&B
2025

Clinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis.

Journal of glaucoma
2025

Altered cortical excitability in tuberous sclerosis and the effect of mTOR inhibitors: An intracranial electrical stimulation study.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

A multicenter cohort study on the efficacy, retention, and tolerability of cenobamate in patients with developmental and epileptic encephalopathies.

Epilepsia
2025

Transcriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge-Weber Syndrome Pathogenesis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): A Case Report and Review of Literature.

Iranian journal of child neurology
2025

Intellectual disability and autistic behavior and their modifying factors in children with tuberous sclerosis complex.

Brain & development
2025

Exploring the Efficacy and Safety of Vagus Nerve Stimulation for the Treatment of Epilepsy in Patients With Sturge-Weber Syndrome: A Pilot Study.

Pediatric neurology
2025

Brain-related sexual dimorphism in tuberous sclerosis complex: an overlooked matter.

Trends in molecular medicine
2025

Parenting Stress in Tuberous Sclerosis Complex.

Pediatric neurology
2025

Under-recognised neurocognitive deficits in adults and adolescents with tuberous sclerosis complex.

Journal of medical genetics
2025

Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures.

Journal of neurodevelopmental disorders
2025

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.

Orphanet journal of rare diseases
2025

Distinct peripheral pro-inflammatory profile associated with tuberous sclerosis complex and epilepsy.

Epilepsia
2025

Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review.

Neuropediatrics
2025

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.

Orphanet journal of rare diseases
2025

Diagnostic Journey for Tuberous Sclerosis Complex-Interviews From a Clinical Trial.

American journal on intellectual and developmental disabilities
2024

Use of Cannabis-Based Medical Products for Pediatric Health Conditions: A Systematic Review of the Recent Literature.

Medical cannabis and cannabinoids
2025

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.

Epilepsia
2025

Epilepsy surgery in children with operculoinsular epilepsy: Results of a large unicentric cohort.

Epilepsia
2024

Methodological insights from the EPISTOP trial to designing clinical trials in rare diseases-A secondary analysis of a randomized clinical trial.

PloS one
2024

Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.

Orphanet journal of rare diseases
2024

A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.

Molecules (Basel, Switzerland)
2024

High Translocation of High Mobility Group Box 1 in the Brain Tissue of Patients with Sturge-Weber Syndrome.

Journal of inflammation research
2025

Update on Cannabidiol in Drug-Resistant Epilepsy.

Indian journal of pediatrics
2024

Safety profile of abdominal magnetic resonance imaging (MRI) performed for renal disease surveillance in tuberous sclerosis complex patients with vagus nerve stimulation: Safety of MRI for TSC Patients with VNS.

Seizure
2024

Prevalence, clinical characteristics and outcomes of seizures in neurofibromatosis type 1: A systematic review and single arm meta-analysis.

Epilepsy research
2025

Dentistry and Sturge-Weber syndrome: Case report and narrative review.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2024

Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.

Saudi medical journal
2025

Vascular Ossification in the Developing Brain: A Case Study of Pediatric Sturge Weber Syndrome.

Neuroscience bulletin
2024

Neurofibromatosis Type 1 Patients With Epilepsy: A Comprehensive Analysis of Demographics, Comorbidities and Healthcare Outcomes.

Experimental dermatology
2024

Cannabidiol Treatment for Adult Patients with Drug-Resistant Epilepsies: A Real-World Study in a Tertiary Center.

Brain and behavior
2024

Evolving treatment strategies for early-life seizures in Tuberous Sclerosis Complex: A review and treatment algorithm.

Epilepsy & behavior : E&B
2025

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.

Epilepsia
2024

Prediction of epileptogenicity in patients with tuberous sclerosis complex using multimodal cerebral MRI.

European journal of radiology
2025

Spinal Neurocutaneous Melanosis.

World neurosurgery
2024

Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.

Medicine
2024

Cenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex.

Pediatric neurology
2024

Sturge-Weber Syndrome accompanied by Epilepsy and congenital glaucoma: A case report.

Asian journal of surgery
2024

Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex.

Pediatric neurology
2024

Tuberous sclerosis complex: Diagnostic features, surveillance, and therapeutic strategies.

Seminars in pediatric neurology
2024

Neurocutaneous disorders identified in the neonatal period and infancy: Hypomelanosis of Ito.

Seminars in pediatric neurology
2024

Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.

Seminars in pediatric neurology
2024

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.

Pediatric neurology
2024

Calvarial Thickening in Tuberous Sclerosis Complex.

World neurosurgery
2024

Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets.

Biomolecules
2024

Radiomic detection of abnormal brain regions in tuberous sclerosis complex.

Medical physics
2024

Mammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment.

Pediatric neurology
2024

Sex-based differences in neuropsychiatric symptoms are due to estradiol/ERα-dependent transcriptional regulation via the modulation of steroid levels by sirolimus.

Pharmacology, biochemistry, and behavior
2025

Death in a bathtub of an adolescent with neurofibromatosis type 2 exhibiting meningioangiomatosis with white matter involvement.

Forensic science, medicine, and pathology
2024

Seizure in Morphea: A Case Report of Parry-Romberg Syndrome.

Cureus
2024

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

The Lancet. Neurology
2024

Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis.

Orphanet journal of rare diseases
2024

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report.

Frontiers in medicine
2024

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.

Pediatric neurology
2024

Impact of seizure onset zone and intracranial electroencephalography ictal characteristics on epilepsy surgery outcomes in tuberous sclerosis complex.

Epilepsy research
2024

Pharmacokinetic variability of everolimus and impact of concomitant antiseizure medications in patients with tuberous sclerosis complex: A retrospective study of therapeutic drug monitoring data in Denmark and Norway.

Medicine
2024

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.

Neurogenetics
2024

Long-term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3-year results from the cannabidiol expanded access program.

Epilepsia open
2024

Partial Rhombencephalosynapsis Presenting in an Adult with Cerebello-Trigeminal-Dermal Dysplasia.

Epilepsy & behavior reports
2024

Have epilepsy outcomes changed for children with tuberous sclerosis complex in Queensland, Australia?

Epilepsia
2024

The emotional burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy: A qualitative study in Japan.

Epilepsy & behavior : E&B
2024

Increased susceptibility to kainate-induced seizures in a mouse model of tuberous sclerosis complex: Importance of sex and circadian cycle.

Epilepsia open
2024

Consensus panel recommendations for the optimization of EPIDIOLEX® treatment for seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex.

Epilepsia open
2024

Association of earlier surgery with improved postoperative language development in children with tuberous sclerosis complex.

Journal of neurosurgery. Pediatrics
2024

Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex.

Journal of medical genetics
2024

Hemispheric surgery in children: perisylvian technique.

Neurosurgical focus: Video
2024

Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil.

Arquivos de neuro-psiquiatria
2024

Undiagnosed Epileptic Case Since Childhood of Sturge-Weber Syndrome: First Case Report from Somalia.

International medical case reports journal
2024

Seizure, Motor, and Cognitive Outcomes After Epilepsy Surgery for Patients With Sturge-Weber Syndrome: Results From a Multicenter Study.

Neurology
2024

Epileptic seizures as an initial symptom for Sturge‑Weber syndrome type III: A report of two cases.

Experimental and therapeutic medicine
2025

Diagnostic pathway and management of first seizures in infants with Sturge-Weber syndrome.

Developmental medicine and child neurology
2024

Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy.

Revue neurologique
2024

Early Subclinical Status Epilepticus May Contribute to Developmental Delays in Infants With Tuberous Sclerosis Complex.

Pediatric neurology
2024

Radio-pathologic correlation: no pial angioma-subarachnoid varicose network drainage pathway in Sturge-Weber syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.

Journal of medical genetics
2024

Seizure freedom but not epilepsy surgery is associated with fewer neuropsychiatric difficulties in patients with tuberous sclerosis.

Epilepsy & behavior : E&B
2024

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

European journal of human genetics : EJHG
2024

Population-based study of rare epilepsy incidence in a US urban population.

Epilepsia
2024

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene.

Stem cell research
2024

The profile of epilepsy and its characteristics in children with neurocutaneous syndromes.

Journal of neurosciences in rural practice
2024

Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.

Annals of the Child Neurology Society
2024

Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III.

Brain & development
2024

Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

Neurosciences (Riyadh, Saudi Arabia)
2024

Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex.

Acta neuropathologica
2024

Sturge-Weber syndrome: an update for the pediatrician.

World journal of pediatrics : WJP
2024

NF1 mutation-driven neuronal hyperexcitability sets a threshold for tumorigenesis and therapeutic targeting of murine optic glioma.

Neuro-oncology
2024

Inhibition of p70 Ribosomal S6 Kinase (S6K1) Reduces Cortical Blood Flow in a Rat Model of Autism-Tuberous Sclerosis.

Neuromolecular medicine
2024

Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?

Neuropathology and applied neurobiology
2024

A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan.

Epilepsy & behavior : E&B
2024

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

Genes
2024

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.

Orphanet journal of rare diseases
2024

Neuropsychiatric comorbidities in tuberous sclerosis complex patients with epilepsy: results of the TAND checklist survey.

Acta neurologica Belgica
2024

Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study.

Epilepsy research
2024

Epilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults.

Epilepsy research
2024

Patients' and physicians' awareness of clinical symptoms and disease severity in tuberous sclerosis complex.

Orphanet journal of rare diseases
2024

Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.

Epilepsy & behavior : E&B
2024

Astroglial calcium signaling and homeostasis in tuberous sclerosis complex.

Acta neuropathologica
2024

Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex.

Orphanet journal of rare diseases
2024

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

American journal of medical genetics. Part A

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É uma categoria diagnóstica que agrupa doenças raras caracterizadas pela coexistência de lesões de pele e epilepsia. Ela inclui afecções do neuroectoderme descritas historicamente na literatura médica.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 8 publicações do grafo RarasNet (PubMed) · 3 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org
  2. Tuberous sclerosis complex.
    Nature reviews. Disease primers2026PMID 41820375
  3. NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026PMID 41090516
  4. Q55785626
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (2026). Síndrome neurocutânea com epilepsia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-neurocutanea-com-epilepsia

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome neurocutânea com epilepsia

ORPHA:166466 · MONDO:0015651
MedGen
UMLS
C5680427
Repurposing
14 candidatos
aminohydroxybutyric-acid — carbonic anhydrase inhibitor
diclofenamide — succinimide antiepileptic
ethosuximide — glutamate receptor antagonist
+11 outros
EuropePMC
Wikidata

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Dado público estruturado
fonte: Wikidata
Rara