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.
Introdução
O que você precisa saber de cara
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
Diagnóstico
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]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
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.
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.
Tem tratamento?
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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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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
Nenhum ensaio clínico registrado para esta condição.
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Journal of medical geneticsResting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures.
Journal of neurodevelopmental disordersMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet journal of rare diseasesDistinct peripheral pro-inflammatory profile associated with tuberous sclerosis complex and epilepsy.
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American journal on intellectual and developmental disabilitiesUse of Cannabis-Based Medical Products for Pediatric Health Conditions: A Systematic Review of the Recent Literature.
Medical cannabis and cannabinoidsVigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.
EpilepsiaEpilepsy surgery in children with operculoinsular epilepsy: Results of a large unicentric cohort.
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Orphanet journal of rare diseasesA Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.
Molecules (Basel, Switzerland)High Translocation of High Mobility Group Box 1 in the Brain Tissue of Patients with Sturge-Weber Syndrome.
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Indian journal of pediatricsSafety 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.
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Saudi medical journalVascular Ossification in the Developing Brain: A Case Study of Pediatric Sturge Weber Syndrome.
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European journal of radiologySpinal Neurocutaneous Melanosis.
World neurosurgeryIdentification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.
MedicineCenobamate's Efficacy for Seizure Treatment in Tuberous Sclerosis Complex.
Pediatric neurologySturge-Weber Syndrome accompanied by Epilepsy and congenital glaucoma: A case report.
Asian journal of surgeryCortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex.
Pediatric neurologyTuberous sclerosis complex: Diagnostic features, surveillance, and therapeutic strategies.
Seminars in pediatric neurologyNeurocutaneous disorders identified in the neonatal period and infancy: Hypomelanosis of Ito.
Seminars in pediatric neurologySturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.
Seminars in pediatric neurologySevere Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.
Pediatric neurologyCalvarial Thickening in Tuberous Sclerosis Complex.
World neurosurgeryTherapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets.
BiomoleculesRadiomic detection of abnormal brain regions in tuberous sclerosis complex.
Medical physicsMammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment.
Pediatric neurologySex-based differences in neuropsychiatric symptoms are due to estradiol/ERα-dependent transcriptional regulation via the modulation of steroid levels by sirolimus.
Pharmacology, biochemistry, and behaviorDeath in a bathtub of an adolescent with neurofibromatosis type 2 exhibiting meningioangiomatosis with white matter involvement.
Forensic science, medicine, and pathologySeizure in Morphea: A Case Report of Parry-Romberg Syndrome.
CureusSafety 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. NeurologyLong-term safety and influence on growth in patients receiving sirolimus: a pooled analysis.
Orphanet journal of rare diseasesUnusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report.
Frontiers in medicineDrug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.
Pediatric neurologyImpact of seizure onset zone and intracranial electroencephalography ictal characteristics on epilepsy surgery outcomes in tuberous sclerosis complex.
Epilepsy researchPharmacokinetic 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.
MedicineGenotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.
NeurogeneticsLong-term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3-year results from the cannabidiol expanded access program.
Epilepsia openPartial Rhombencephalosynapsis Presenting in an Adult with Cerebello-Trigeminal-Dermal Dysplasia.
Epilepsy & behavior reportsHave epilepsy outcomes changed for children with tuberous sclerosis complex in Queensland, Australia?
EpilepsiaThe 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&BIncreased susceptibility to kainate-induced seizures in a mouse model of tuberous sclerosis complex: Importance of sex and circadian cycle.
Epilepsia openConsensus panel recommendations for the optimization of EPIDIOLEX® treatment for seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex.
Epilepsia openAssociation of earlier surgery with improved postoperative language development in children with tuberous sclerosis complex.
Journal of neurosurgery. PediatricsDevelopment and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex.
Journal of medical geneticsHemispheric surgery in children: perisylvian technique.
Neurosurgical focus: VideoNeuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil.
Arquivos de neuro-psiquiatriaUndiagnosed Epileptic Case Since Childhood of Sturge-Weber Syndrome: First Case Report from Somalia.
International medical case reports journalSeizure, Motor, and Cognitive Outcomes After Epilepsy Surgery for Patients With Sturge-Weber Syndrome: Results From a Multicenter Study.
NeurologyEpileptic seizures as an initial symptom for Sturge‑Weber syndrome type III: A report of two cases.
Experimental and therapeutic medicineDiagnostic pathway and management of first seizures in infants with Sturge-Weber syndrome.
Developmental medicine and child neurologyPathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy.
Revue neurologiqueEarly Subclinical Status Epilepticus May Contribute to Developmental Delays in Infants With Tuberous Sclerosis Complex.
Pediatric neurologyRadio-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 NeurosurgeryEncephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.
Journal of medical geneticsSeizure freedom but not epilepsy surgery is associated with fewer neuropsychiatric difficulties in patients with tuberous sclerosis.
Epilepsy & behavior : E&BDiagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
European journal of human genetics : EJHGPopulation-based study of rare epilepsy incidence in a US urban population.
EpilepsiaGeneration 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 researchThe profile of epilepsy and its characteristics in children with neurocutaneous syndromes.
Journal of neurosciences in rural practiceRetrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.
Annals of the Child Neurology SocietyVariation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III.
Brain & developmentReview of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.
Neurosciences (Riyadh, Saudi Arabia)Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex.
Acta neuropathologicaSturge-Weber syndrome: an update for the pediatrician.
World journal of pediatrics : WJPNF1 mutation-driven neuronal hyperexcitability sets a threshold for tumorigenesis and therapeutic targeting of murine optic glioma.
Neuro-oncologyInhibition of p70 Ribosomal S6 Kinase (S6K1) Reduces Cortical Blood Flow in a Rat Model of Autism-Tuberous Sclerosis.
Neuromolecular medicineTargeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?
Neuropathology and applied neurobiologyA 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&BThe Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.
GenesLymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.
Orphanet journal of rare diseasesNeuropsychiatric comorbidities in tuberous sclerosis complex patients with epilepsy: results of the TAND checklist survey.
Acta neurologica BelgicaPerampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study.
Epilepsy researchEpilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults.
Epilepsy researchPatients' and physicians' awareness of clinical symptoms and disease severity in tuberous sclerosis complex.
Orphanet journal of rare diseasesTuberous sclerosis complex in adulthood: focus on epilepsy prognosis.
Epilepsy & behavior : E&BAstroglial calcium signaling and homeostasis in tuberous sclerosis complex.
Acta neuropathologicaTreatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex.
Orphanet journal of rare diseasesCommon epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.
American journal of medical genetics. Part AAssociações
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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
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.
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
Síndrome neurocutânea com epilepsia
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- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub