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Síndrome Sneddon
ORPHA:820CID-10 · I77.8CID-11 · 4A44.6OMIM 182410DOENÇA RARA

A síndrome de Sneddon (SS) é uma vasculopatia trombótica não inflamatória rara, caracterizada pela combinação de doença cerebrovascular com livedo racemoso.

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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.

Pesquisas ativas
2 ensaios
3 total registrados no ClinicalTrials.gov
Publicações científicas
178 artigos
Último publicado: 2026 Jan 14

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: I77.8
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
19 sintomas
❤️
Coração
5 sintomas
🫘
Rins
3 sintomas
👁️
Olhos
3 sintomas
🩸
Sangue
2 sintomas
😀
Face
2 sintomas

+ 32 sintomas em outras categorias

Características mais comuns

100%prev.
Início na infância
Obrigatório (100%)
100%prev.
Livedo reticularis
Frequência: 4/4
100%prev.
Acidente vascular cerebral
Obrigatório (100%)
100%prev.
Livedo
Obrigatório (100%)
100%prev.
IgM total circulante diminuída
Obrigatório (100%)
100%prev.
Linfopenia
Obrigatório (100%)
70sintomas
Muito frequente (20)
Frequente (21)
Ocasional (21)
Muito raro (2)
Sem dados (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 70 características clínicas mais associadas, ordenadas por frequência.

Início na infânciaInfantile onset
Obrigatório (100%)100%
Livedo reticularis
Frequência: 4/4100%
Acidente vascular cerebralStroke
Obrigatório (100%)100%
Livedo
Obrigatório (100%)100%
IgM total circulante diminuídaDecreased circulating total IgM
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico178PubMed
Últimos 10 anos82publicações
Pico202112 papers
Linha do tempo
2026Hoje · 2026🧪 2014Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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: Autosomal dominant, Not applicable.

ADA2Adenosine deaminase 2Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Neutrophil degranulationSurfactant metabolism
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (3)
vasculitis due to ADA2 deficiencySneddon syndromeDiamond-Blackfan anemia
HGNC:1839UniProt:Q9NZK5

Variantes genéticas (ClinVar)

627 variantes patogênicas registradas no ClinVar.

🧬 ADA2: NM_001282225.2(ADA2):c.978G>A (p.Gly326=) ()
🧬 ADA2: NM_001282225.2(ADA2):c.1081+7C>T ()
🧬 ADA2: NM_001282225.2(ADA2):c.741C>T (p.Ala247=) ()
🧬 ADA2: NM_001282225.2(ADA2):c.1329A>G (p.Pro443=) ()
🧬 ADA2: NM_001282225.2(ADA2):c.543-14C>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 143 variantes classificadas pelo ClinVar.

50
93
Patogênica (35.0%)
VUS (65.0%)
VARIANTES MAIS SIGNIFICATIVAS
ADA2: NM_001282225.2(ADA2):c.71dup (p.Gly25fs) [Likely pathogenic]
ADA2: NM_001282225.2(ADA2):c.368G>A (p.Trp123Ter) [Likely pathogenic]
ADA2: NM_001282225.2(ADA2):c.794C>G (p.Ser265Ter) [Pathogenic]
ADA2: NM_001282225.2(ADA2):c.972+1G>C [Likely pathogenic]
ADA2: NM_001282225.2(ADA2):c.1201A>T (p.Lys401Ter) [Likely pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome Sneddon

🗺️

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

3 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
58 papers (10 anos)
#1

Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.

Science China. Life sciences2026 Jan 14
#2

A case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.

BMC neurology2025 Nov 28

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.

#3

Neuroimaging Features of Sneddon Syndrome.

Neurology2025 Apr 08
#4

Multiple Aneurysms and Cerebral Infarction in a Patient with Sneddon Syndrome.

Annals of neurology2025 Feb
#5

Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.

Oxford medical case reports2025 Aug

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

Ver todas no PubMed

📚 EuropePMC136 artigos no totalmostrando 75

2026

Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.

Science China. Life sciences
2025

A case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.

BMC neurology
2025

Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.

Oxford medical case reports
2025

Sneddon's syndrome: A case report with diagnostic approach and imaging review.

Radiology case reports
2025

Neuroimaging Features of Sneddon Syndrome.

Neurology
2024

Comprehensive insights of Sneddon syndrome: A clinical perspective.

Journal of central nervous system disease
2025

Multiple Aneurysms and Cerebral Infarction in a Patient with Sneddon Syndrome.

Annals of neurology
2024

Sneddon's Syndrome with Underlying Protein S Deficiency and Decreased Protein C Activity.

Skinmed
2024

Combination therapy for Sneddon syndrome to reduce the incidence of cerebrovascular complications.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2024

Sneddon's Syndrome and the Capability to Work: With Regard to a Clinical Case.

Indian journal of occupational and environmental medicine
2024

Inadequate response to antiplatelet therapy in Sneddon's syndrome. Time to re-evaluate management recommendations?

Anais brasileiros de dermatologia
2024

Sneddon Syndrome: A Case Report From Saudi Arabia.

Cureus
2024

Antiphospholipid antibody positive Sneddon syndrome: a case report.

Folia medica
2024

Unusual case of retinal arterial branch occlusion: possible variant of Sneddon syndrome.

Archivos de la Sociedad Espanola de Oftalmologia
2023

Hidden in the Rash: A Sneddon Syndrome Case Report.

Cureus
2023

Cognitive and psychiatric signs revealing Sneddon syndrome: A case report.

Clinical case reports
2024

An unusual case of intracerebral hemorrhage: exploring the link with Sneddon's syndrome.

Medizinische Klinik, Intensivmedizin und Notfallmedizin
2023

An Eight-Year-Old Child With Sneddon Syndrome: A Rare Case Report.

Cureus
2023

Extensive giant fusiform aneurysm in Sneddon syndrome.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2023

Obstructive valve thrombosis after transcatheter aortic valve replacement (TAVR) in Sneddon syndrome without antiphospholipid antibodies.

BMJ case reports
2023

Triple positive profile in antiphospholipid syndrome: prognosis, relapse and management from a retrospective multicentre study.

RMD open
2022

Localized livedo racemosa as an indicator for giant cell arteritis.

JAAD case reports
2023

Sneddon syndrome: a rare cause of stroke hidden in plain sight.

Acta neurologica Belgica
2022

Antiphospholipid-negative Sneddon's syndrome: A comprehensive overview of a rare entity.

Annales de dermatologie et de venereologie
2021

The diagnostic value of skin biopsies in Sneddon syndrome.

PloS one
2021

Concomitant myocardial injury and valvular disease in Sneddon syndrome: a case report.

European heart journal. Case reports
2021

Coexistence of scleromyxedema and Sneddon syndrome.

JAAD case reports
2020

Freiberg's Infarction as the First Clinical Presentation of Sneddon Syndrome.

Journal of pediatric neurosciences
2021

Sneddon syndrome: a comprehensive clinical review of 53 patients.

Journal of neurology
2021

Three cases of Sneddon syndrome: A comparison with lymphocytic thrombophilic arteritis.

The Australasian journal of dermatology
2021

Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occusion - Part II: Coagulation Disorders, Emboli, and Other.

Actas dermo-sifiliograficas
2021

Characteristic 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 Neurophysiology
2020

Superficial Siderosis and Microbleed Restricted in Cortex Might Be Correlated to Atrophy and Cognitive Decline in Sneddon's Syndrome.

Frontiers in neurology
2021

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.

Journal of neurology
2021

Sneddon syndrome: under diagnosed disease, complex clinical manifestations and challenging diagnosis. A case-based review.

Rheumatology international
2020

Livedo racemosa in neurological diseases: an update on the differential diagnoses.

European journal of neurology
2021

Heritable and non-heritable uncommon causes of stroke.

Journal of neurology
2021

Renal involvement in Sneddon syndrome.

Nefrologia
2020

[Recurrent stroke, acrocyanosis and livedo racemosa: is it always Sneddon's syndrome?].

Revista de neurologia
2019

Sneddon Syndrome: A Case Report Exploring the Current Challenges Faced with Diagnosis and Management.

Case reports in neurology
2020

Sneddon syndrome: anaesthetic and surgical challenges in cardiac valve surgery.

Perfusion
2020

[Cerebrovascular events, headache and livedoracemosa - diagnosis at a glance?].

Fortschritte der Neurologie-Psychiatrie
2019

Livedo racemosa: a cutaneous manifestation of Sneddon's syndrome.

BMJ case reports
2020

Mechanisms of kidney disease in Sneddon's syndrome: Case report and literature review
.

Clinical nephrology
2020

Sneddon syndrome associated with two novel ADA2 gene mutations.

Rheumatology (Oxford, England)
2019

Teaching NeuroImages: Sneddon syndrome.

Neurology
2019

[A woman with skin lesions and brain infarcts].

Nederlands tijdschrift voor geneeskunde
2019

Sneddon Syndrome: A Comprehensive Overview.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2019

[Sneddon's syndrome in a young woman with antiphospholipid syndrome, ischaemic apoplexy and epileptic seizures].

Ugeskrift for laeger
2019

Livedo racemosa generalisata: an anthological vision through Vladímir Lébedev painting.

Journal of neurology
2018

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause.

Cerebrovascular diseases (Basel, Switzerland)
2018

Long-term follow-up of early-onset Sneddon syndrome: A case report.

JAAD case reports
2018

Cognitive and psychiatric changes as first clinical presentation in Sneddon syndrome.

Dementia &amp; neuropsychologia
2018

Sneddon syndrome and non-bacterial thrombotic endocarditis: a clinicopathological study.

Journal of neurology
2018

Aortic valve replacement in a patient with Sneddon syndrome.

Journal of cardiac surgery
2018

[Non-infective endocarditis].

La Revue de medecine interne
2018

Generalized Net-like Erythema and Stroke in a Young Female.

JAMA dermatology
2017

Vasculopathies, cutaneous necrosis and emergency in dermatology.

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
2017

Psychosis with suicide attempt in Sneddon syndrome.

Psychiatry and clinical neurosciences
2016

Idiopathic livedo racemosa presenting with splenomegaly and diffuse lymphadenopathy.

Cutis
2017

Occlusive Nonvasculitic Vasculopathy.

The American Journal of dermatopathology
2017

BRANCH RETINAL ARTERY OCCLUSION ASSOCIATED WITH PARACENTRAL ACUTE MIDDLE MACULOPATHY IN A PATIENT WITH LIVEDO RETICULARIS.

Retinal cases &amp; brief reports
2016

The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.

Journal of the neurological sciences
2016

Treatment of Skin Ulcers Secondary to Sneddon Syndrome With Alprostadil (Prostaglandin E1).

JAMA dermatology
2016

Sneddon's syndrome: it is all in the ectoderm.

Practical neurology
2016

[Non-Hodgkin's lymphoma presenting as Sneddon syndrome].

Medicina clinica
2015

[Ischemic stroke in young patients: about 6 cases].

The Pan African medical journal
2015

[A case of Sneddon's syndrome associated with Moskowitz's syndrome].

Revue medicale de Liege
2016

Sneddon's syndrome with optic disc macroaneurysm and macular edema successfully treated with subtenon steroid injection.

Acta ophthalmologica
2016

Sneddon syndrome--imaging findings.

Arquivos de neuro-psiquiatria
2015

[A case of Sneddon syndrome started with 
neurological symptoms].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2015

Stent-graft Repair of a True Internal Thoracic Artery Aneurysm.

Annals of vascular surgery
2015

Cardiac manifestations of Sneddon's syndrome.

International journal of cardiology
2015

Strokes in Sneddon syndrome without antiphospholipid antibodies.

Annals of neurology
2014

Sneddon's syndrome: a comprehensive review of the literature.

Orphanet journal of rare diseases
Ver todos os 136 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças 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.

  1. Sneddon syndrome: one phenotype, distinct pathophysiological entities with tailored treatments.
    Science China. Life sciences· 2026· PMID 41575702mais citado
  2. A case series of Sneddon syndrome: clinical features, diagnostic workup, and literature review.
    BMC neurology· 2025· PMID 41316009mais citado
  3. Neuroimaging Features of Sneddon Syndrome.
    Neurology· 2025· PMID 40036712mais citado
  4. Multiple Aneurysms and Cerebral Infarction in a Patient with Sneddon Syndrome.
    Annals of neurology· 2025· PMID 39387313mais citado
  5. Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.
    Oxford medical case reports· 2025· PMID 40860782mais citado
  6. Sneddon's syndrome: A case report with diagnostic approach and imaging review.
    Radiol Case Rep· 2025· PMID 40686793recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:820(Orphanet)
  2. OMIM OMIM:182410(OMIM)
  3. MONDO:0008436(MONDO)
  4. GARD:7664(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Compêndio · Raras BR

Síndrome Sneddon

ORPHA:820 · MONDO:0008436
Prevalência
Unknown
Herança
Autosomal dominant, Not applicable
CID-10
I77.8 · Outras afecções especificadas das artérias e das arteríolas
CID-11
Ensaios
2 ativos
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0282492
EuropePMC
Wikidata
Papers 10a
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