A melanocitose neurocutânea (NCM) é uma doença neurológica congênita rara caracterizada por agregações anormais de nevomelanócitos no sistema nervoso central (melanocitose leptomeníngea) associada a nevos melanocíticos congênitos grandes ou gigantes (NMC). A MNC pode ser assintomática ou apresentar-se como comprometimento neurológico grave e progressivo, às vezes resultando em morte.
Introdução
O que você precisa saber de cara
A melanocitose neurocutânea (NCM) é uma doença neurológica congênita rara caracterizada por agregações anormais de nevomelanócitos no sistema nervoso central (melanocitose leptomeníngea) associada a nevos melanocíticos congênitos grandes ou gigantes (NMC). A MNC pode ser assintomática ou apresentar-se como comprometimento neurológico grave e progressivo, às vezes resultando em morte.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 52 características clínicas mais associadas, ordenadas por frequência.
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
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity
Cell membraneGolgi apparatus membrane
Leukemia, juvenile myelomonocytic
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Variantes genéticas (ClinVar)
84 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
30 vias biológicas associadas aos genes desta condição.
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 — Melanocitose neurocutânea
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
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
Neurocutaneous Melanocytosis-Associated Hydrocephalus: The Memorial Sloan Kettering Experience from 2001 to 2022.
We report two neurocutaneous melanocytosis (NCM) patients who required ventriculoperitoneal shunt placement and subsequently developed intraperitoneal melanoma. These patients with NCM are at an increased risk for developing NRAS-associated melanomas in the central nervous system, which in turn may lead to symptomatic hydrocephalus requiring cerebrospinal fluid diversion. Due to the rarity of NCM, current knowledge on disease progression and appropriate management is limited. Ongoing studies aiming to better understand this condition and inform its clinical management may help to identify risk factors for developing more severe complications.
Case Report: Coexistence of Giant Congenital Melanocytic Nevus and Holocord Spinal Nerve Sheath Tumor.
Melanocytes and Schwann cells share a neural crest origin. Giant congenital melanocytic nevi (CMN) are linked to neurocutaneous melanocytosis (NCM), melanoma risk, and CNS anomalies. We report a case of giant CMN with a holocord intradural nerve sheath tumor. A 19-month-old male with CMN presented for spinal mass treatment. History included recurrent pulmonary infections, severe neurological impairment, and developmental delay. Spinal MRI revealed an intradural-intramedullary mass extending from C5 to L1 (up to 2 cm thick), compressing nerve roots. Partial resection was performed, though the thoracic portion adhered irreversibly to the cord and roots. Pathology identified a hybrid nerve sheath tumor. To our knowledge, this is the first reported case of a spinal nerve sheat tumor associated with CMN in a pediatric patient. The surgery and pathology of the case demonstrated distinctive features. This unique case and its management are shared with the literature.
Spinal Neurocutaneous Melanosis.
Neurocutaneous melanosis is characterized by melanin-producing cells within the skin, leptomeninges, or brain parenchyma. It is a severe manifestation of congenital melanocytic nevus syndrome and can develop malignant melanomas. The disorder is commonly present in pediatric patients within the first two years of life and has a poor prognosis. We report a case of an 8-year-old male with epilepsy and cognitive deficit presenting spinal neurocutaneous melanosis.
Congenital melanocytic nevi and risk of melanoma.
The presence of congenital melanocytic nevi (CMN) is determined in utero. The location, size, and number of CMN may be of cosmetic concern with significant psychosocial implications. They may also be associated with symptoms such as pruritus, eczema and/or xerosis, and skin fragility; however, the most medically concerning issue is the association of CMN with the risk of developing cutaneous melanoma, extracutaneous melanoma, and neurocutaneous melanocytosis. Patients with CMN are currently risk-stratified based on the projected adult maximum diameter of the largest CMN and the number of CMN (satellites) present. In small and medium CMN, the absolute risk of developing cutaneous melanoma is estimated to be approximately 0.3% with a relative risk of 9.5. Although patients with large CMN are at increased risk for developing primary cutaneous melanoma within the CMN, they are also at increased risk for developing primary melanoma within the central nervous system in association with central nervous system melanocytic deposits, an entity known as neurocutaneous melanocytosis. The absolute risk for developing melanoma in patients with large CMN is estimated to be between 1.25% and 10% with a relative risk between 52 and 1,046. Regarding the risk for the presence of neurocutaneous melanocytosis, the risk correlates with the number of CMN, with the lowest risk in those with a single CMN and with risk escalation as the number of CMN increases. We provide an overview of the existing evidence about the risk of melanoma and neurocutaneous melanocytosis in patients with CMN. The role of clinical examination, dermatoscopy, magnetic resonance imaging scanning of the central nervous system, and the role of surgery in the management of CMN of varying sizes is discussed.
Neurocutaneous melanocytosis as a rare cause of focal cortical dysplasia and drug-resistant epilepsy.
Publicações recentes
Neurocutaneous melanocytosis as a rare cause of focal cortical dysplasia and drug-resistant epilepsy.
Case Report: Coexistence of Giant Congenital Melanocytic Nevus and Holocord Spinal Nerve Sheath Tumor.
Congenital neurocutaneous melanocytosis.
Congenital melanocytic neoplasms: clinical, histopathological and recent molecular developments.
Therapeutic Strategies in Neurocutaneous Melanocytosis.
📚 EuropePMC44 artigos no totalmostrando 45
Neurocutaneous melanocytosis as a rare cause of focal cortical dysplasia and drug-resistant epilepsy.
Epileptic disorders : international epilepsy journal with videotapeCase Report: Coexistence of Giant Congenital Melanocytic Nevus and Holocord Spinal Nerve Sheath Tumor.
Fetal and pediatric pathologyCongenital neurocutaneous melanocytosis.
Archives of disease in childhood. Fetal and neonatal editionCongenital melanocytic neoplasms: clinical, histopathological and recent molecular developments.
Virchows Archiv : an international journal of pathologyTherapeutic Strategies in Neurocutaneous Melanocytosis.
Anticancer researchCentral Nervous System Involvement and Neuroradiological Imaging Insights of Neurocutaneous Melanocytosis in Congenital Melanocytic Nevi.
Diagnostics (Basel, Switzerland)Neurocutaneous Melanocytosis-Associated Hydrocephalus: The Memorial Sloan Kettering Experience from 2001 to 2022.
Pediatric blood & cancerSpinal Neurocutaneous Melanosis.
World neurosurgeryCongenital melanocytic nevus syndrome: An association between congenital melanocytic nevi and neurological abnormalities.
Seminars in pediatric neurologyCongenital melanocytic nevi and risk of melanoma.
Clinics in dermatologyA 13-Year-Old Girl Affected by Melanocytic Tumors of the Central Nervous System-The Case.
International journal of molecular sciencesSpinal melanoma with optic neuropathy -rare manifestation of Neurocutaneous melanosis and PET-MRI findings.
eNeurologicalSciUpdates in the Management of Congenital Melanocytic Nevi.
Children (Basel, Switzerland)Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition.
Pediatric blood & cancerAlpelisib decreases nevocytes of congenital melanocytic nevi.
Journal of the European Academy of Dermatology and Venereology : JEADVSerum levels of S-100 protein are directly proportional to the size, number, thickness and degree of cellularity of congenital melanocytic nevi.
Journal of the American Academy of DermatologySeeking better resolution to magnetic resonance imaging recommendations for infants with congenital melanocytic nevi.
Journal of the American Academy of DermatologyCentral nervous system magnetic resonance imaging abnormalities and neurologic outcomes in pediatric patients with congenital nevi: A 10-year multi-institutional retrospective study.
Journal of the American Academy of DermatologyNeurosurgical management of patients with neurocutaneous melanosis: a systematic review.
Neurosurgical focusNeurocutaneous Melanocytosis in a 24-year-old Woman.
Neurology IndiaNeurocutaneous melanocytosis-associated malignant melanoma presenting with peritoneal seeding.
Pediatric dermatologyNon-dysraphic extramedullary intradural spinal lipoma with neurocutaneous melanocytosis.
British journal of neurosurgeryCongenital melanocytic naevi: An up-to-date overview.
The Australasian journal of dermatologyNeurocutaneous melanocytosis (melanosis).
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIntroduction to phacomatoses (neurocutaneous disorders) in childhood.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCongenital melanocytic nevi.
Current opinion in pediatricsPhacomatoses in the pediatric age group.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNeurocutaneous Melanocytosis and Leptomeningeal Melanoma.
Journal of pediatric hematology/oncologyNeurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.
Radiographics : a review publication of the Radiological Society of North America, IncGiant Congenital Melanocytic Nevus Accompanied by an Intracranial Arachnoid Cyst.
Dermatology practical & conceptualArea Postrema: Fetal Maturation, Tumors, Vomiting Center, Growth, Role in Neuromyelitis Optica.
Pediatric neurologyPosterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.
The neuroradiology journalGiant Congenital Melanocytic Nevus Treated With Trametinib.
PediatricsSpectrum of Clinical, Neuroimaging, and Cerebrospinal Fluid Features of Adult Neurocutaneous Melanocytosis.
European neurologyThe Dual PI3K/mToR Inhibitor Omipalisib/GSK2126458 Inhibits Clonogenic Growth in Oncogenically-transformed Cells from Neurocutaneous Melanocytosis.
Cancer genomics & proteomicsClinical course, treatment modalities, and quality of life in patients with congenital melanocytic nevi - data from the German CMN registry.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGCommon Skin Conditions in Children: Congenital Melanocytic Nevi and Infantile Hemangiomas.
FP essentialsCutaneous and ocular manifestations of neurocutaneous syndromes.
Clinics in dermatologyInsulin-like growth factor 1 receptor signaling via Akt: a general therapeutic target in neurocutaneous melanocytosis?
Neuro-oncologyNeurocutaneous melanocytosis presenting in a teenager: A case report and review of the literature.
Journal of cancer research and therapeuticsNevospheres from neurocutaneous melanocytosis cells show reduced viability when treated with specific inhibitors of NRAS signaling pathway.
Neuro-oncologyAmplification of mutated NRAS leading to congenital melanoma in neurocutaneous melanocytosis.
Melanoma researchSevere hydrocephalus caused by diffuse leptomeningeal and neurocutaneous melanocytosis of antenatal onset: a clinical, pathologic, and molecular study of 2 cases.
Human pathologyGiant congenital melanocytic nevi and neurocutaneous melanosis.
Case reports in medicineNeurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn.
Pediatric radiologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Melanocitose neurocutânea.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Melanocitose neurocutânea
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Neurocutaneous Melanocytosis-Associated Hydrocephalus: The Memorial Sloan Kettering Experience from 2001 to 2022.
- Case Report: Coexistence of Giant Congenital Melanocytic Nevus and Holocord Spinal Nerve Sheath Tumor.
- Spinal Neurocutaneous Melanosis.
- Congenital melanocytic nevi and risk of melanoma.
- Neurocutaneous melanocytosis as a rare cause of focal cortical dysplasia and drug-resistant epilepsy.
- Congenital neurocutaneous melanocytosis.
- Congenital melanocytic neoplasms: clinical, histopathological and recent molecular developments.
- Therapeutic Strategies in Neurocutaneous Melanocytosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2481(Orphanet)
- OMIM OMIM:249400(OMIM)
- MONDO:0009578(MONDO)
- GARD:7186(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q11777035(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
