A síndrome de Sneddon (SS) é uma vasculopatia trombótica não inflamatória rara, caracterizada pela combinação de doença cerebrovascular com livedo racemoso.
Introdução
O que você precisa saber de cara
A síndrome de Sneddon (SS) é uma vasculopatia trombótica não inflamatória rara, caracterizada pela combinação de doença cerebrovascular com livedo racemoso.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 32 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 70 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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: Autosomal dominant, Not applicable.
Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity
Secreted
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
Variantes genéticas (ClinVar)
627 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 143 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 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 — Síndrome Sneddon
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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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.
A case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.
Sneddon syndrome, a rare, non-inflammatory thrombotic vasculopathy characterized by livedo racemosa and cerebrovascular disease. We present a case series of six women diagnosed with Sneddon syndrome. We conducted a thorough analysis of clinical, radiological, and laboratory data, including results of prothrombotic and autoimmune screening. Our findings emphasize the importance of considering Sneddon syndrome as a potential cause of stroke, particularly in young women, and underscore the necessity of a comprehensive dermatological examination when evaluating stroke etiology. Additionally, we provide a comprehensive literature review of the clinical manifestations, radiological and histopathological findings, as well as treatment options. A thorough dermatological examination can aid in early detection of Sneddon syndrome and may change the course of treatment of stroke in young adults.
Neuroimaging Features of Sneddon Syndrome.
Multiple Aneurysms and Cerebral Infarction in a Patient with Sneddon Syndrome.
Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.
Sneddon syndrome (SS) is a rare neurocutaneous disorder consisting of livedo racemosa (LR) and cerebrovascular disease with an incidence of 4 per 1 000 000 annually. It may be idiopathic or associated with autoimmune or genetic factors, including deficiency of adenosine deaminase 2 (DADA2). We describe a 17-month-old girl with recurrent fevers, hepatosplenomegaly, LR, and progressive liver fibrosis. A pathogenic ADA2 mutation and LDLR mutation associated with familial hypercholesterolemia (FH) were detected by genetic testing. Despite corticosteroids, etanercept, and immunosuppressants, she continued to deteriorate and developed portal vein thrombosis and increasing hepatic dysfunction. DADA2 is well described to cause systemic vasculopathy, but its association with liver fibrosis is still unclear. Our case highlights a potential association between DADA2 and LDLR mutation leading to hepatic injury, extending the broad spectrum of SS-related complications. Further research is needed to understand the role of these genes and their mutations in the systemic and hepatic manifestations of SS.
Publicações recentes
Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.
A case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.
Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.
Sneddon's syndrome: A case report with diagnostic approach and imaging review.
Neuroimaging Features of Sneddon Syndrome.
📚 EuropePMC136 artigos no totalmostrando 75
Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.
Science China. Life sciencesA case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.
BMC neurologyPediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.
Oxford medical case reportsSneddon's syndrome: A case report with diagnostic approach and imaging review.
Radiology case reportsNeuroimaging Features of Sneddon Syndrome.
NeurologyComprehensive insights of Sneddon syndrome: A clinical perspective.
Journal of central nervous system diseaseMultiple Aneurysms and Cerebral Infarction in a Patient with Sneddon Syndrome.
Annals of neurologySneddon's Syndrome with Underlying Protein S Deficiency and Decreased Protein C Activity.
SkinmedCombination therapy for Sneddon syndrome to reduce the incidence of cerebrovascular complications.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGSneddon's Syndrome and the Capability to Work: With Regard to a Clinical Case.
Indian journal of occupational and environmental medicineInadequate response to antiplatelet therapy in Sneddon's syndrome. Time to re-evaluate management recommendations?
Anais brasileiros de dermatologiaSneddon Syndrome: A Case Report From Saudi Arabia.
CureusAntiphospholipid antibody positive Sneddon syndrome: a case report.
Folia medicaUnusual case of retinal arterial branch occlusion: possible variant of Sneddon syndrome.
Archivos de la Sociedad Espanola de OftalmologiaHidden in the Rash: A Sneddon Syndrome Case Report.
CureusCognitive and psychiatric signs revealing Sneddon syndrome: A case report.
Clinical case reportsAn unusual case of intracerebral hemorrhage: exploring the link with Sneddon's syndrome.
Medizinische Klinik, Intensivmedizin und NotfallmedizinAn Eight-Year-Old Child With Sneddon Syndrome: A Rare Case Report.
CureusExtensive giant fusiform aneurysm in Sneddon syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyObstructive valve thrombosis after transcatheter aortic valve replacement (TAVR) in Sneddon syndrome without antiphospholipid antibodies.
BMJ case reportsTriple positive profile in antiphospholipid syndrome: prognosis, relapse and management from a retrospective multicentre study.
RMD openLocalized livedo racemosa as an indicator for giant cell arteritis.
JAAD case reportsSneddon syndrome: a rare cause of stroke hidden in plain sight.
Acta neurologica BelgicaAntiphospholipid-negative Sneddon's syndrome: A comprehensive overview of a rare entity.
Annales de dermatologie et de venereologieThe diagnostic value of skin biopsies in Sneddon syndrome.
PloS oneConcomitant myocardial injury and valvular disease in Sneddon syndrome: a case report.
European heart journal. Case reportsCoexistence of scleromyxedema and Sneddon syndrome.
JAAD case reportsFreiberg's Infarction as the First Clinical Presentation of Sneddon Syndrome.
Journal of pediatric neurosciencesSneddon syndrome: a comprehensive clinical review of 53 patients.
Journal of neurologyThree cases of Sneddon syndrome: A comparison with lymphocytic thrombophilic arteritis.
The Australasian journal of dermatologyClinical and Histopathologic Characteristics of the Main Causes of Vascular Occusion - Part II: Coagulation Disorders, Emboli, and Other.
Actas dermo-sifiliograficasCharacteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySuperficial Siderosis and Microbleed Restricted in Cortex Might Be Correlated to Atrophy and Cognitive Decline in Sneddon's Syndrome.
Frontiers in neurologyA NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
Journal of neurologySneddon syndrome: under diagnosed disease, complex clinical manifestations and challenging diagnosis. A case-based review.
Rheumatology internationalLivedo racemosa in neurological diseases: an update on the differential diagnoses.
European journal of neurologyHeritable and non-heritable uncommon causes of stroke.
Journal of neurologyRenal involvement in Sneddon syndrome.
Nefrologia[Recurrent stroke, acrocyanosis and livedo racemosa: is it always Sneddon's syndrome?].
Revista de neurologiaSneddon Syndrome: A Case Report Exploring the Current Challenges Faced with Diagnosis and Management.
Case reports in neurologySneddon syndrome: anaesthetic and surgical challenges in cardiac valve surgery.
Perfusion[Cerebrovascular events, headache and livedoracemosa - diagnosis at a glance?].
Fortschritte der Neurologie-PsychiatrieLivedo racemosa: a cutaneous manifestation of Sneddon's syndrome.
BMJ case reportsMechanisms of kidney disease in Sneddon's syndrome: Case report and literature review .
Clinical nephrologySneddon syndrome associated with two novel ADA2 gene mutations.
Rheumatology (Oxford, England)Teaching NeuroImages: Sneddon syndrome.
Neurology[A woman with skin lesions and brain infarcts].
Nederlands tijdschrift voor geneeskundeSneddon Syndrome: A Comprehensive Overview.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association[Sneddon's syndrome in a young woman with antiphospholipid syndrome, ischaemic apoplexy and epileptic seizures].
Ugeskrift for laegerLivedo racemosa generalisata: an anthological vision through Vladímir Lébedev painting.
Journal of neurologyAdenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause.
Cerebrovascular diseases (Basel, Switzerland)Long-term follow-up of early-onset Sneddon syndrome: A case report.
JAAD case reportsCognitive and psychiatric changes as first clinical presentation in Sneddon syndrome.
Dementia & neuropsychologiaSneddon syndrome and non-bacterial thrombotic endocarditis: a clinicopathological study.
Journal of neurologyAortic valve replacement in a patient with Sneddon syndrome.
Journal of cardiac surgery[Non-infective endocarditis].
La Revue de medecine interneGeneralized Net-like Erythema and Stroke in a Young Female.
JAMA dermatologyVasculopathies, cutaneous necrosis and emergency in dermatology.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaPsychosis with suicide attempt in Sneddon syndrome.
Psychiatry and clinical neurosciencesIdiopathic livedo racemosa presenting with splenomegaly and diffuse lymphadenopathy.
CutisOcclusive Nonvasculitic Vasculopathy.
The American Journal of dermatopathologyBRANCH RETINAL ARTERY OCCLUSION ASSOCIATED WITH PARACENTRAL ACUTE MIDDLE MACULOPATHY IN A PATIENT WITH LIVEDO RETICULARIS.
Retinal cases & brief reportsThe diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.
Journal of the neurological sciencesTreatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1).
JAMA dermatologySneddon's syndrome: it is all in the ectoderm.
Practical neurology[Non-Hodgkin's lymphoma presenting as Sneddon syndrome].
Medicina clinica[Ischemic stroke in young patients: about 6 cases].
The Pan African medical journal[A case of Sneddon's syndrome associated with Moskowitz's syndrome].
Revue medicale de LiegeSneddon's syndrome with optic disc macroaneurysm and macular edema successfully treated with subtenon steroid injection.
Acta ophthalmologicaSneddon syndrome--imaging findings.
Arquivos de neuro-psiquiatria[A case of Sneddon syndrome started with neurological symptoms].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesStent-graft Repair of a True Internal Thoracic Artery Aneurysm.
Annals of vascular surgeryCardiac manifestations of Sneddon's syndrome.
International journal of cardiologyStrokes in Sneddon syndrome without antiphospholipid antibodies.
Annals of neurologySneddon's syndrome: a comprehensive review of the literature.
Orphanet journal of rare diseasesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.
- A case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.
- Neuroimaging Features of Sneddon Syndrome.
- Multiple Aneurysms and Cerebral Infarction in a Patient with Sneddon Syndrome.
- Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.
- Sneddon's syndrome: A case report with diagnostic approach and imaging review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:820(Orphanet)
- OMIM OMIM:182410(OMIM)
- MONDO:0008436(MONDO)
- GARD:7664(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q684840(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