Pular para o conteúdo
Sarcoidose
ORPHA:797CID-10 · D86.0CID-11 · 4B20DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Visão / ocularInício infantilHerança Complex
Também conhecida comoDoença de Besnier-BoeckDoença de Besnier-Boeck-Schaumann
Sinônimos clínicos: Doença de Besnier-Boeck-Schaumann · Sarcoide de Boeck

Sarcoidose é uma doença que afeta vários sistemas do corpo, de causa desconhecida, caracterizada pela formação de granulomas imunológicos nos órgãos afetados.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A síndrome de Blau é um distúrbio inflamatório que afeta principalmente a pele, as articulações e os olhos. Os sinais e sintomas começam na infância, geralmente antes dos 4 anos de idade.

Uma forma de inflamação cutânea chamada dermatite granulomatosa é tipicamente o primeiro sinal da síndrome de Blau. Essa condição da pele causa uma erupção cutânea persistente que pode ser escamosa ou envolver nódulos duros (nódulos) que podem ser sentidos sob a pele. A erupção geralmente é encontrada no tronco, nos braços e nas pernas.

A artrite é outra característica comum da síndrome de Blau. Em pessoas com a condição, a artrite é caracterizada pela inflamação do revestimento das articulações (a sinovial). Essa inflamação, conhecida como sinovite, está associada ao inchaço e à dor nas articulações. A sinovite geralmente começa nas articulações das mãos, dos pés, dos pulsos e dos tornozelos. À medida que a condição piora, pode envolver articulações adicionais e restringir o movimento ao diminuir a amplitude de movimento em muitas articulações. Em pessoas com a síndrome de Blau, os tendões, bem como as articulações, podem ficar inflamad

os, causando tenossinovite.

A maioria das pessoas com a síndrome de Blau também desenvolve uveíte, que é o inchaço e a inflamação da camada média do olho (a úvea). A úvea inclui a porção colorida do olho (a íris) e tecidos relacionados que ficam sob a parte branca do olho (a esclera). A uveíte pode causar irritação e dor nos olhos, aumento da sensibilidade à luz brilhante (fotofobia) e visão embaçada. Outras estruturas do olho também podem ficar inflamad

as, incluindo a camada protetora mais externa do olho (a conjuntiva), as glândulas lacrimais, o tecido especializado sensível à luz que reveste a parte posterior do olho (a retina) e o nervo que transporta informações do olho para o cérebro (o nervo óptico). Embora as pessoas com a síndrome de Blau possam ter visão normal, a inflamação de qualquer uma dessas estruturas pode levar a comprometimento grave da visão ou cegueira.

Algumas pessoas com a síndrome de Blau desenvolvem doença renal (nefrite) devido à inflamação. Elas também podem ter depósitos de cálcio nos rins (nefrocalcinosis) e frequentemente desenvolvem insuficiência renal crônica. A inflamação dos vasos sanguíneos (vasculite) pode causar cicatrização e morte do tecido nos vasos e impedir o fluxo sanguíneo para os tecidos e órgãos.

Com menos frequência, a síndrome de Blau pode afetar outras partes do corpo, incluindo o fígado, o baço, os linfonodos, o cérebro, os vasos sanguíneos, os pulmões e o coração. A inflamação que envolve esses órgãos e tecidos pode prejudicar sua função e causar complicações que ameaçam a vida. Raramente, as pessoas com a condição apresentam distúrbios na função nervosa (neuropatia), episódios de febre ou pressão alta nos vasos sanguíneos que transportam sangue do coração para os pulmões (hipertensão pulmonar).

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

Sarcoidose é uma doença que afeta vários sistemas do corpo, de causa desconhecida, caracterizada pela formação de granulomas imunológicos nos órgãos afetados.

Pesquisas ativas
72 ensaios
317 total registrados no ClinicalTrials.gov
Publicações científicas
31.270 artigos
Último publicado: 2026 Mar
Em pesquisa
10 moléculas
OpenTargets

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
60.0
United States
Início
Adolescent
+ adult, childhood, elderly
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D86.0
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

🧬
Pele e cabelo
13 sintomas
👁️
Olhos
11 sintomas
🫁
Pulmão
8 sintomas
🫘
Rins
8 sintomas
❤️
Coração
7 sintomas
🫃
Digestivo
7 sintomas

+ 43 sintomas em outras categorias

Características mais comuns

55%prev.
Derrame pleural
Frequente (79-30%)
55%prev.
Fadiga
Frequente (79-30%)
55%prev.
Aumento da contagem de linfócitos T
Frequente (79-30%)
55%prev.
Morfologia anormal da pele
Frequente (79-30%)
55%prev.
Leucopenia
Frequente (79-30%)
55%prev.
Uveíte
Frequente (79-30%)
121sintomas
Frequente (19)
Ocasional (51)
Muito raro (7)
Sem dados (44)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 121 características clínicas mais associadas, ordenadas por frequência.

Derrame pleuralPleural effusion
Frequente (79-30%)55%
FadigaFatigue
Frequente (79-30%)55%
Frequente (79-30%)55%
Morfologia anormal da peleAbnormal skin morphology
Frequente (79-30%)55%
LeucopeniaLeukopenia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico31.270PubMed
Últimos 10 anos200publicações
Pico2026188 papers
Linha do tempo
2026Hoje · 2026🧪 1978Primeiro ensaio clínico
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

3 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.

HLA-DRB1HLA class II histocompatibility antigen, DRB1 beta chainMajor susceptibility factor inRestrito
VIAS BIOLÓGICAS (7)
Generation of second messenger moleculesTranslocation of ZAP-70 to Immunological synapsePhosphorylation of CD3 and TCR zeta chainsCo-inhibition by PD-1Downstream TCR signaling
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
1832.6 TPM
Pulmão
1234.8 TPM
Baço
990.6 TPM
Intestino delgado
607.2 TPM
Nervo tibial
598.3 TPM
OUTRAS DOENÇAS (16)
narcolepsy-cataplexy syndromefollicular lymphomaVogt-Koyanagi-Harada diseasepediatric multiple sclerosis
HGNC:4948UniProt:P01911
NOD2Nucleotide-binding oligomerization domain-containing protein 2Disease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (7)
SARS-CoV-2 activates/modulates innate and adaptive immune responsesNOD1/2 Signaling PathwayTAK1-dependent IKK and NF-kappa-B activation Interleukin-1 signalingJNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
MECANISMO DE DOENÇA

Blau syndrome

An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Sun Exposed Lower leg
18.6 TPM
Vagina
16.5 TPM
Linfócitos
16.2 TPM
Skin Not Sun Exposed Suprapubic
15.8 TPM
Sangue
14.2 TPM
OUTRAS DOENÇAS (3)
Blau syndromeinflammatory bowel disease 1Yao syndrome
HGNC:5331UniProt:Q9HC29
BTNL2Butyrophilin-like protein 2Major susceptibility factor inTolerante
VIAS BIOLÓGICAS (1)
Butyrophilin (BTN) family interactions
MECANISMO DE DOENÇA

Sarcoidosis 2

An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved.

OUTRAS DOENÇAS (2)
sarcoidosissarcoidosis, susceptibility to, 2
HGNC:1142UniProt:Q9UIR0

Variantes genéticas (ClinVar)

138 variantes patogênicas registradas no ClinVar.

🧬 HLA-DRB1: NM_002124.4(HLA-DRB1):c.100+212A>G ()
🧬 HLA-DRB1: NM_002124.4(HLA-DRB1):c.100+1G>A ()
🧬 HLA-DRB1: NM_002124.4(HLA-DRB1):c.100+6T>A ()
🧬 HLA-DRB1: NM_002124.4(HLA-DRB1):c.100+6T>C ()
🧬 HLA-DRB1: NM_002124.4(HLA-DRB1):c.100+15C>T ()
Ver todas no ClinVar

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.
✓Aprovado5
3Fase 36
2Fase 216
·Pré-clínico73
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 100 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Sarcoidose

🗺️

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

Onde estão os ensaios

Com ensaio aberto em 24 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

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

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Publicações mais relevantes

Timeline de publicações
10.398 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 10.398

#1

Atrial FDG avidity is associated with reduced atrial strain and contractility independent of atrial fibrillation and cardiac sarcoidosis.

European heart journal. Imaging methods and practice2026 Jan

Este estudo revelou que uma maior atividade metabólica de glicose no átrio (detectada por FDG-PET) está independentemente associada a uma pior função e dilatação do átrio esquerdo, mesmo na ausência de fibrilação atrial (FA) ou sarcoidose cardíaca. Para pacientes e médicos, isso é relevante porque sugere que essas alterações metabólicas podem ser um componente precoce da miopatia atrial, servindo como um indicador de risco para o desenvolvimento futuro de FA antes mesmo que ela se manifeste clinicamente, possibilitando assim um monitoramento e uma possível intervenção mais precoces.

🇧🇷 traduzido
#2

Diagnostic Value of EBUS-guided Transbronchial MEdiastinal Cryobiopsy versus ConvenTIONal Bronchoscopic Approaches for Intrathoracic Stage I/II SARcoidosis: protocol for a randomised controlled trial (DETECTION-SAR-II).

BMJ open respiratory research2026 Mar 19

O diagnóstico de sarcoidose intratorácica requer biópsia, mas as abordagens broncoscópicas convencionais frequentemente exigem múltiplos procedimentos para confirmação. Este estudo comparará uma nova técnica, a criobiópsia mediastinal transbrônquica guiada por EBUS (EBUS-TBMC), que obtém amostras maiores, com os métodos tradicionais em 410 pacientes. O objetivo é determinar se a EBUS-TBMC é igualmente eficaz ou superior na detecção de granulomas, visando otimizar o diagnóstico e potencialmente simplificar o processo para pacientes e médicos.

🇧🇷 traduzido
#3

Neurosarcoidosis-like reaction under TNF-α inhibitors: a case report and literature review of a paradoxical immune phenomenon.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026 Mar 16

Este artigo destaca um fenômeno paradoxal: embora inibidores de TNF-alfa sejam usados para tratar doenças inflamatórias (e até sarcoidose refratária), eles podem, paradoxalmente, induzir reações que mimetizam a sarcoidose, incluindo manifestações neurológicas (neurosarcoidose-like). Um caso é relatado onde isso ocorreu com adalimumab, resolvendo-se após a suspensão do medicamento. Para médicos e pacientes, é crucial considerar essa causa iatrogênica em quadros neuroinflamatórios, o que impacta diretamente as decisões terapêuticas de longo prazo, como a reavaliação do inibidor de TNF-alfa e a seleção de tratamentos alternativos.

🇧🇷 traduzido
#4

Trigeminal Neurosarcoidosis as a Neurosurgical Dilemma: A Literature Review and Illustrative Case.

Neurology India2026 Mar 01

A neurosarcoidose trigeminal (TNS) é uma condição rara que representa um dilema diagnóstico significativo para médicos, pois simula radiologicamente tumores comuns do nervo trigêmeo, como schwannomas ou meningiomas. Para pacientes e médicos, é crucial entender que o diagnóstico definitivo só é confirmado por biópsia tecidual, uma vez que a imagem não é suficiente. Quando a TNS é suspeita, a cirurgia deve ser limitada a uma biópsia ou ressecção parcial para estabelecer o diagnóstico e minimizar a morbidade, sendo o tratamento médico a base da terapia subsequente.

🇧🇷 traduzido
#5

Association of cardiac sarcoidosis with coronary slow flow: a case report unraveling the enigma.

European heart journal. Case reports2026 Mar

Este artigo, um relato de caso, destaca que o fluxo coronário lento (SCF), na ausência de obstruções nas artérias, pode ser um marcador importante de disfunção microvascular e inflamação miocárdica ativa, como na sarcoidose cardíaca (CS). Para pacientes e médicos, isso sugere que a identificação do SCF pode ser crucial para diagnosticar a CS oculta e potencialmente ajudar na avaliação do risco de morte súbita cardíaca, mesmo sem sintomas cardíacos prévios. São necessários mais estudos para entender o papel exato dessa disfunção microvascular na sarcoidose e sua implicação na prevenção.

🇧🇷 traduzido

Publicações recentes

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📚 EuropePMC21.602 artigos no totalmostrando 194

2026

ACE I/D genotype influences longitudinal serum ACE activity in sarcoidosis.

Gene
2026

Unequal Burdens: Exploring Racial Differences in Sarcoidosis-Related Deaths Due to Pulmonary Hypertension Versus Fibrosis in the United States (1999-2023).

Cureus
2026

When FDG misleads: Lateral wall uptake, dyssynchrony, and the risk of overdiagnosing cardiac sarcoidosis.

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
2026

"When Immunity Backfires: meta-analysis on Sarcoidosis Reactivation in Cancer Patients Treated with Immune Checkpoint Inhibitors".

Critical reviews in oncology/hematology
2026

Exploring spatial patterns of sarcoidosis mortality in Spain between 2009 and 2023.

Revista clinica espanola
2026

Blau syndrome with atrophoderma vermiculata-like appearance: a case report.

Frontiers in immunology
2026

Atrial FDG avidity is associated with reduced atrial strain and contractility independent of atrial fibrillation and cardiac sarcoidosis.

European heart journal. Imaging methods and practice
2026

Minor salivary gland biopsy: A less invasive technique and applications.

Reumatologia clinica
2026

Diagnostic Value of EBUS-guided Transbronchial MEdiastinal Cryobiopsy versus ConvenTIONal Bronchoscopic Approaches for Intrathoracic Stage I/II SARcoidosis: protocol for a randomised controlled trial (DETECTION-SAR-II).

BMJ open respiratory research
2026

Sarcoid Uveitis with Choroidal Involvement.

Clinical ophthalmology (Auckland, N.Z.)
2026

Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.

Annals of plastic surgery
2026

Cytomegalovirus Infection Mimics Manifestations of Underlying Diseases in Patients With Autoimmune Disorders: A Case Report and Literature Review.

Immunity, inflammation and disease
2026

Biomarkers and genetic determinants of cardiac sarcoidosis: current status, the unmet needs and future perspectives.

Frontiers in cardiovascular medicine
2026

Inflammatory Hilar Mass and Cavernous Transformation in Disseminated Histoplasmosis: A Rare Cause of Noncirrhotic Portal Hypertension.

ACG case reports journal
2026

Value of Endobronchial Ultrasound-Derived Radiomics in Differentiating Pulmonary Sarcoidosis from Mediastinal Lymph Node Tuberculosis.

Respiration; international review of thoracic diseases
2026

Neurosarcoidosis-like reaction under TNF-α inhibitors: a case report and literature review of a paradoxical immune phenomenon.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Tattoos causing local and even generalized lymphadenopathies including sarcoidosis.

European journal of microbiology &amp; immunology
2026

Right Atrial and SVC Cardiac Sarcoidosis: Not All Atrial Masses Are Tumors.

JACC. Case reports
2026

Suspected anal malignancy turned out to be sarcoidosis; a case report.

International journal of surgery case reports
2026

A case of cardiac sarcoidosis with a ventricular aneurysm visualized by four-dimensional left ventricular imaging using TrueVue glass.

European heart journal. Imaging methods and practice
2026

Myriad presentations of cutaneous tuberculosis: A case series from a rural tertiary hospital.

The Indian journal of tuberculosis
2026

Ventricular Tachycardia Ablation Associated Abnormalities on FDG PET/CT in Patients with Suspected Cardiac Sarcoidosis.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2026

Advancing Gene Therapies and Novel Treatment Strategies for Infiltrative Cardiomyopathies: A Comprehensive Review of Targeted Interventions.

Current cardiology reviews
2026

Mucocutaneous leishmaniasis misdiagnosed as cutaneous sarcoidosis for 4 years.

Clinical and experimental dermatology
2026

Clinical Utility of 18F-FDG PET/CT in Rheumatology: Diagnostic and Therapeutic Insights from a Ten-Year Real-World Cohort.

Journal of clinical medicine
2026

Comprehensive Assessment of Biventricular and Biatrial Mechanics in Patients with Extracardiac Sarcoidosis Without Fibrotic Pulmonary Involvement.

Journal of clinical medicine
2026

Photon-Counting Detector Computed Tomography Depicts a Ventricular Tachycardia Substrate: Periaortic Septal Intramural Late Iodine Enhancement.

JACC. Case reports
2026

Implications of the 2024 American Heart Association Classification of Cardiac Sarcoidosis: Characteristics and Outcome of Patients Across the Continuum of Diagnostic Likelihood.

Journal of the American Heart Association
2026

Rare Neurosarcoidosis Involvements.

Respirology case reports
2026

Safety and efficacy of namilumab for the treatment of chronic pulmonary sarcoidosis (RESOLVE-Lung): A randomized, double-blinded, multicenter, Phase 2 study.

The European respiratory journal
2026

Comparative Diagnostic Utility of EBUS Mediastinal Cryobiopsy (EBUS-MCB) and EBUS-TBNA in Granulomatous Mediastinal Lymphadenopathy: The CRYO-GRANULOMA Study.

Journal of bronchology &amp; interventional pulmonology
2026

Trigeminal Neurosarcoidosis as a Neurosurgical Dilemma: A Literature Review and Illustrative Case.

Neurology India
2026

Global and Chinese trends in disease burden of interstitial lung disease and pulmonary sarcoidosis from 1990 to 2021 with projections to 2040: a COVID-19 impact analysis based on the Global Burden of Disease Study 2021.

Journal of thoracic disease
2026

A case of trigeminal nerve neurosarcoidosis initially presenting with isolated neurological findings mimicking trigeminal schwannoma: a case report and review of the literature.

Journal of medical case reports
2026

Advanced cardiac imaging in cardiac sarcoidosis: current evidence and future directions.

Heart (British Cardiac Society)
2026

Tubercular chorioretinitis mimicking sarcoidosis in a patient with celiac disease and erythema nodosum: A case report.

World journal of clinical cases
2026

Incidental Visceral Peritoneal and Hepatic Sarcoidosis During Routine Laparoscopic Appendectomy: A Case Report and Implications for Laparoscopic Entry.

Cureus
2026

Tumor Necrosis Factor-Alpha (TNF-α) Inhibitor Treatment in Hidradenitis Suppurativa: A Population-Based Retrospective Cohort Study of Comorbid Risks.

Cureus
2026

Sarcoidosis With Muscular and Peripheral Nervous System Involvement: An Atypical Presentation of a Rare Disease.

Cureus
2026

Global perspective on pulmonary fibrosis: epidemiology, regional variations, gaps in care and future directions.

Thorax
2026

Refractory multisystem sarcoidosis on a long axial field of view (LAFOV) PET-CT system.

Thorax
2026

Evaluation of Optical Coherence Tomography Angiography Parameters in Pulmonary, Ocular and Extrapulmonary Sarcoidosis.

Ocular immunology and inflammation
2026

Transthyretin amyloid depletion therapy: lessons from the phase 2 trial of coramitug.

Heart failure reviews
2026

PD-1 inhibitor-induced rheumatic, endocrine, and sarcoidosis-like immune-related adverse events in metastatic melanoma are associated with improved survival and lower corticosteroid exposure.

Immunotherapy advances
2026

Gut microbiota and sarcoidosis: a concise review.

Frontiers in medicine
2026

Demographic and physiologic differences between fibrotic and non-fibrotic CT subtypes of sarcoidosis.

Chest
2026

Prognostic impact of corticosteroid maintenance dose and re-escalation in patients with cardiac sarcoidosis.

Open heart
2026

Coronary Microvascular Dysfunction in Cardiomyopathies: Insights on Clinical and Prognostic Roles.

Reviews in cardiovascular medicine
2026

"Letter to the editor: nanomedicine delivery of anti-fibrotic sirnas in rare cardiac sarcoidosis: targeting granulomatous infiltrates".

Annals of medicine and surgery (2012)
2026

Clinical features, treatment and outcomes of sarcoidosis in New Zealand: a comparative study between Māori and New Zealand European patients.

Internal medicine journal
2026

From guidelines to reality: how do physicians really manage sarcoidosis?

BMC pulmonary medicine
2026

Autoimmune and malignant diseases secondary to autoimmune/inflammatory syndrome induced by modeling substances (ASIA-MS): A short communication of a clinical case series.

Reumatologia clinica
2026

Line-field confocal optical coherence tomography of cutaneous sarcoidosis: LC-OCT of cutaneous sarcoidosis.

Italian journal of dermatology and venereology
2026

Association of cardiac sarcoidosis with coronary slow flow: a case report unraveling the enigma.

European heart journal. Case reports
2026

Progressive Unilateral Cavitary Lung Disease With Nondiagnostic Bronchoalveolar Lavage Flow Cytometry Mimicking Sarcoidosis: A Case Report.

Cureus
2026

Diagnosis and treatment of sarcoidosis based on immunological etiology and mechanisms.

Frontiers in medicine
2026

Pembrolizumab-Responsive Cerebellar PML in Untreated Sarcoidosis: A Case Report.

Cerebellum (London, England)
2026

Isolated nonparathyroid hormone-mediated hypercalcemia: a rare presentation of retroperitoneal sarcoidosis.

JCEM case reports
2026

Drivers of Methotrexate Polyglutamate Concentration in Erythrocytes: Insights from Immune-Mediated Inflammatory Diseases and Pediatric Acute Lymphoblastic Leukemia.

Pharmaceuticals (Basel, Switzerland)
2026

Unlocking the Diagnostic Challenge of Tuberculosis and Sarcoidosis Intrathoracic Lymphadenopathy: Potential Role of HMGB1 and miRNA-221 as Diagnostic Tools.

Microorganisms
2026

Tear-Based Oxidative Stress Biomarkers in Primary and Sarcoidosis-Associated Dry Eye Disease.

International journal of molecular sciences
2026

Increased Risk of Incident Uveitis Among Patients with Psoriasis: A Nationwide Population-Based Cohort Study.

Diagnostics (Basel, Switzerland)
2026

CD71 expression in Rosai-Dorfman disease: a useful adjunct marker in the differential diagnosis of histiocytic proliferations.

Histopathology
2026

Diagnosis and Management of Patients with Cardiac Sarcoidosis by a Regional Specialist Service.

Diseases (Basel, Switzerland)
2026

The Development of Sarcoidosis in an Ulcerative Colitis Patient Treated with Vedolizumab: A Case Report and Review of the Literature.

Clinics and practice
2026

Disseminated cutaneous sarcoidosis triggered by eyebrow tattoo: a case report highlighting lesions beyond tattooed sites.

Oxford medical case reports
2026

Clinical Presentations of Granulomatous Skin Reactions Following Tattooing and Cosmetic Micropigmentation: A Systematic Review.

Cureus
2026

Beyond the Skin: Granulomatous Uveitis Linked to Active Tattoo Inflammation.

Cureus
2026

Cannabidiol-induced cellular and matrix-associated responses in primary equine sarcoid cells.

Journal of veterinary internal medicine
2026

Isolated levator palpebrae superioris muscle enlargement as presenting sign of combined sarcoidosis and Grave's orbitopathy.

Journal francais d'ophtalmologie
2026

Diagnostic delay and phenotypic differences in cardiac sarcoidosis: a descriptive study of diagnostic and follow-up clinical data.

Open heart
2026

A Tiger in Sheep's Clothing: When the Tiger-Man Sign is Not Sarcoidosis.

QJM : monthly journal of the Association of Physicians
2026

Shared governance of international myositis networks.

Clinical and experimental rheumatology
2026

Clinical utility of lung biopsy in fibrotic interstitial lung disease.

American journal of respiratory and critical care medicine
2026

Occupational and environmental exposures contribute to lung function heterogeneity in sarcoidosis.

American journal of respiratory and critical care medicine
2026

Spatial Transcriptomics Uncovers Hybrid, Pro-Inflammatory and Pro-Fibrotic Cellular Niches in Pulmonary Granuloma of Patients with Chronic Sarcoidosis.

American journal of respiratory and critical care medicine
2026

Sarcoidosis in focus: spatial transcriptomics offers a new perspective.

American journal of respiratory and critical care medicine
2026

International validation of electronic nose technology as diagnostic tool for fibrotic interstitial lung diseases.

American journal of respiratory and critical care medicine
2026

Alopecia Areata - Effects of Treatment with Upadacitinib - Two Case Reports.

Clinical, cosmetic and investigational dermatology
2026

Healthcare professionals' perspectives on implementation of home monitoring in individuals with pulmonary fibrosis.

ERJ open research
2026

Neurosarcoidosis Presenting With Cerebellar Hemorrhage and Spinal Cord Involvement: A Case Report.

Cureus
2026

From Giant Cells to Granulomas: A Diagnostic Odyssey in Inflammatory Cardiomyopathy.

CJC open
2026

Unusual Presentation of Tuberculosis: Diagnostic Challenges in Isolated Axillary Tuberculous Lymphadenitis.

Annals of African medicine
2026

Hepatocellular Carcinoma Associated with Hepatic Sarcoidosis and Budd-Chiari Syndrome: A Case Report and Review of the Literature.

Internal medicine (Tokyo, Japan)
2026

Birdshot Chorioretinopathy with Cystoid Macular Oedema.

Klinische Monatsblatter fur Augenheilkunde
2026

A Modern Approach to Brown-Séquard Syndrome: A Case Report.

Cureus
2026

[Tiger man: diagnosis at a glance in F18-FDG-PET-CT for the evaluation of muscle weakness and hypercalcemia].

Praxis
2026

Risk of Cardiovascular Implantable Electronic Device Infection in Patients With Cardiac Sarcoidosis.

Journal of cardiovascular electrophysiology
2026

Predictive value of baseline serum angiotensin-converting enzyme (sACE) levels for steroid response in sarcoidosis.

Lung India : official organ of Indian Chest Society
2026

A case report of neurosarcoidosis mimicking Guillain-Barré syndrome: the diagnostic utility of skin biopsy in neurosarcoidosis.

BMC neurology
2026

Immune Mechanisms of Viral, Autoimmune, and Immune Checkpoint Inhibitor-Associated Myocarditis.

Immunological reviews
2026

ERJ Advances: Home monitoring in interstitial lung disease.

The European respiratory journal
2026

P wave oversensing and rate-related bundle branch block with T wave oversensing leading to inappropriate S-ICD therapies in cardiac sarcoidosis: A case report.

Indian pacing and electrophysiology journal
2026

Intraosseous sarcoidosis imitating peri-implantitis: A case study.

Clinical advances in periodontics
2026

Radiomic profiling of chest CT in a cohort of sarcoidosis cases.

Scientific reports
2026

Scoping out sarcoidosis: the evolving role of bronchoscopy.

European respiratory review : an official journal of the European Respiratory Society
2026

Are there differences in antigen recognition by mucosal-associated invariant T cells against mycobacterial infection and sarcoidosis?

Respiratory investigation
2026

Multimodality Image Integration of FDG-PET and CMR Into Electroanatomic Mapping Identifies Electrophysiologic Signatures of Myocardial Inflammation in Cardiac Sarcoidosis.

JACC. Cardiovascular imaging
2026

Epidemiology of Uveitis and Extra-Uveal Inflammation in a Referral Center in Central Italy.

Ocular immunology and inflammation
2026

Optimizing Perioperative Management of Sarcoidosis in Noncardiac Surgery: A Focused Review and Practical Framework.

Anesthesiology
2026

Hepatic and Splenic Sarcoidosis Without Lymphadenopathy: An Atypical Multisystem Presentation.

Cureus
2026

Cutaneous Rhodococcus equi Infection in an Immunocompetent Host: A Case Report.

Cureus
2026

"Burned-Out" Hypertrophic Cardiomyopathy: Overlap on Cardiac MRI With Other Nonischemic Cardiomyopathies.

JACC. Case reports
2026

The diagnosis dilemma of coexistence of neurosarcoidosis and tuberculosis: case reports and literature review.

Frontiers in medicine
2026

Neurosarcoidosis: When Altered Mental Status Is a Sign of Systemic Disease.

Cureus
2026

Osseous Sarcoidosis Mimicking Metastatic Disease in a Patient With Longstanding Pulmonary Sarcoidosis: A Case Report.

Cureus
2025

Targeting the mycobiome in sarcoidosis.

Frontiers in medicine
2026

Global trends in Sarcoidosis-Associated Mortality, 2001 - 2023: Insights from the WHO Mortality Database.

Annals of the American Thoracic Society
2026

Silicosis, Sarcoidosis, and Silicosarcoidosis Are Overlapping Diagnoses and Difficult to Differentiate.

American journal of industrial medicine
2026

Administration of Hormone Replacement Therapy Containing Estrogen and Development of Autoimmune Associated Vocal Fold Lesions in Women.

Journal of voice : official journal of the Voice Foundation
2026

Neurosarcoidosis of the hypothalamus, infundibulum, and pituitary gland: A retrospective cohort study.

Journal of the neurological sciences
2026

Kidney Involvement in Sarcoidosis-Lymphoma Syndrome: A Report of Two Cases.

CEN case reports
2026

T-Sign: A Novel CMR Scar Pattern With Favorable Outcomes During Ventricular Tachycardia Ablation in Cardiac Sarcoidosis.

JACC. Clinical electrophysiology
2026

Exploring microbial signatures in sarcoidosis: etiological and therapeutic implications of host-microbiota interactions.

Frontiers in immunology
2026

An Unusual Cause of Cast Nephropathy in a Patient Presenting With Hypercalcemia and Renal Failure: A Case Report.

Cureus
2026

Routine Histopreparations After Tonsillectomy, Tonsillotomy, Adenotomy or Conchotomy: A Necessary Diagnosis in Times of Dwindling Resources?

Journal of clinical medicine
2026

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.

Current rheumatology reports
2026

Beyond breast abscess and malignancy: a case of bilateral idiopathic granulomatous mastitis.

Annals of medicine and surgery (2012)
2026

Idiopathic unilateral ocular vasculitis in a young adult: a case report on clinical course and steroid response.

Annals of medicine and surgery (2012)
2026

Impact of 18 FDG-avidity and immunosuppression on idiopathic and genetic cardiomyopathies.

medRxiv : the preprint server for health sciences
2026

Adalimumab-Induced Folliculitis-Like Lichenoid Sarcoidosis.

The Journal of dermatology
2026

Refining Beryllium Lymphocyte Proliferation Testing for Equitable Chronic Beryllium Disease vs Sarcoidosis Differentiation.

Chest
2026

Complement Inhibition for Acute Neuromyelitis Optica Spectrum Disorder Attacks: Insights From an International Case Series.

Neurology(R) neuroimmunology &amp; neuroinflammation
2026

Oral Tofacitinib in Treatment of Cutaneous Sarcoidosis.

Indian dermatology online journal
2026

The Probability of Detecting Sarcoidosis in Uveitis Patients with Intermittent Tattoo Swelling: A Retrospective Analysis.

Ocular immunology and inflammation
2026

Sarcoidosis relapse risk factors: a single-centre retrospective cluster analysis.

BMJ open respiratory research
2026

Scalp Melanoma in a Young Patient With Systemic Sarcoidosis: Multidisciplinary Approach.

Clinical case reports
2026

Cardiac Sarcoidosis: Pathophysiology and Diagnostic-Therapeutic Processes.

Reviews in cardiovascular medicine
2026

An Evaluation of Endobronchial Ultrasound-Transbronchial Needle Aspiration (EBUS-TBNA): Molecular Diagnoses and Patient Satisfaction.

Cureus
2026

Enlarged, activated alveolar macrophages as quantitative surrogates of disease activity in pulmonary sarcoidosis.

Frontiers in medicine
2026

Symptomatic Sarcoidosis Treated with Acthar® Gel: Insights from a Physician-Reported Chart Review.

Pulmonary therapy
2026

Clinically suspected granulomatous skin lesions on the face: A prospective clinico-pathological correlation study of 77 cases.

Indian journal of dermatology, venereology and leprology
2026

Clinical characteristics and systemic treatment in patients with elderly-onset sarcoidosis: A retrospective single-centre study in Japan.

Respiratory investigation
2026

Sarcoidosis: Disease mechanisms, diagnostic pathway and treatment.

Autoimmunity reviews
2026

68GA-DOTA-TATE PET/CT in the Assessment of Cranial and Spinal Hypertrophic Pachymeningitis.

Clinical nuclear medicine
2025

Sarcoidosis and Risk of Nephrolithiasis in US Black Women: Data from the Black Women's Health Study.

CHEST pulmonary
2026

Multiparametric Ultrasound Findings of Testicular Sarcoidosis.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2026

Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.

Annals of the rheumatic diseases
2026

Severe hand involvement as an isolated presentation of sarcoidosis.

Joint bone spine
2026

Multiple sclerosis and uveitis: Clinical characteristics and prognosis.

Multiple sclerosis and related disorders
2026

Contribution of Ocular Involvement to the Diagnosis of Systemic Sarcoidosis and Prognostic Significance.

Ocular immunology and inflammation
2026

Thirty-Year Experience of Lung Transplantation for Pulmonary Sarcoidosis.

Respiration; international review of thoracic diseases
2026

FDG uptake in upper abdominal lymph node as a distinctive pattern in sarcoidosis.

Japanese journal of radiology
2026

Clinical relevance of serum lysozyme in sarcoidosis with kidney impairment.

Immunological medicine
2026

Autoimmune/Inflammatory Syndrome Induced by Adjuvants With Sarcoid-Like Pulmonary Lesions Triggered by Silicone Implant Rupture and Improved After Explantation.

Respirology case reports
2025

Parathyroid-independent hypercalcemia as initial presentation of renal sarcoidosis with granulomatous interstitial nephritis: a case report.

Frontiers in endocrinology
2025

Tattoo-related Uveitis: A Devastating and Fairly Common Association.

The Journal of clinical and aesthetic dermatology
2026

[Coexistance of primary hyperparathyroidism and sarcoidosis in a hypercalcemic patient].

Problemy endokrinologii
2026

Novel clinical application of urinary angiotensin-converting enzyme assay in renal sarcoidosis: a retrospective observational study.

Clinical and experimental nephrology
2026

A Case of Systemic Sarcoidosis Revealed by Tattoo Associated Granuloma and Uveitis.

Acta dermato-venereologica
2026

A Concurrent Finding of Pulmonary Sarcoidosis, Primary Hyperparathyroidism, Thyroid Nodules, and Adrenal Tumor in a Sexagenarian.

Cureus
2026

Renal Sarcoidosis Presenting as Acute Kidney Injury With Persistent Hypercalcemia in the Absence of Respiratory Symptoms: A Report of a Rare Case.

Cureus
2026

A distinctive "Shotgun-like" 18F-FDG PET uptake pattern in disseminated cutaneous sarcoidosis responding to TNFα inhibitors.

European journal of nuclear medicine and molecular imaging
2026

Ichthyosiform sarcoidosis with associated calcinosis cutis and cardiac arrest.

JAAD case reports
2025

Comparative Diagnostic Performance of Cardiac MRI and FDG-PET in Myocardial Inflammation: A Systematic Review and Meta-Analysis.

Cureus
2026

Granulomas in the Heart: Pathophysiology, Diagnosis, Management, and Outcomes in Cardiac Sarcoidosis.

Cureus
2026

Inflammation and Immunogenetics in Cardiomyopathies: From Molecular Mechanisms to Therapeutic Perspectives.

Immunological reviews
2026

Pleuroparenchymal Fibroelastosis Lesion in Explanted Lungs of a Patient with Fibrotic Pulmonary Sarcoidosis.

Internal medicine (Tokyo, Japan)
2026

Granulomatous systemic reaction mimicking sarcoidosis after hip arthroplasty: Diagnostic contribution of particle analysis.

Joint bone spine
2026

Nephrolithiasis in sarcoidosis: epidemiology, risk factors, and clinical implications.

World journal of urology
2026

Eyelid margin tattoo granuloma in an individual with systemic sarcoidosis.

Orbit (Amsterdam, Netherlands)
2026

Asthma in Patients With Confirmed Pulmonary Sarcoidosis.

Canadian respiratory journal
2025

The pathological correlation between pulmonary tuberculosis and sarcoidosis patients and the impact of presence of nodules on pulmonary tuberculosis patients.

Frontiers in cellular and infection microbiology
2025

Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.

Frontiers in immunology
2026

[Scrofuloderma-rare type of cutaneous tuberculosis in western industrialized countries].

Dermatologie (Heidelberg, Germany)
2026

A 73-Year-Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping.

Annals of clinical and translational neurology
2026

Neuromuscular ultrasound with superb microvascular imaging in muscular sarcoidosis: morphological features and treatment monitoring.

BMJ case reports
2026

Systemic sarcoidosis in a TB-endemic region: diagnostic role of linear endobronchial ultrasound mediastinal lymph node cryobiopsy and stepwise management approach.

BMJ case reports
2026

Diagnostic performance of 68Ga-DOTANOC PET/computed tomography in cardiac sarcoidosis: comparison with 18F-fluorodeoxyglucose PET/computed tomography and cardiac magnetic resonance.

Nuclear medicine communications
2025

A structured list of laboratory tests for screening the possible causes of small fiber neuropathy in clinical practice.

Frontiers in neurology
2025

Potential benefits of JAK inhibitor therapy in Blau syndrome: a case report.

Frontiers in immunology
2025

Serum paraoxonase-1 as a marker of oxidative stress and pulmonary dysfunction in sarcoidosis: association with disease activity and prognostic potential.

Frontiers in immunology
2026

The Impact of Nutritional Status on Survival and Development of Sarcoidosis: A Scoping Review of Current Evidence and Research Gaps.

Nutrients
2026

Unmasking Early Cardiac Fibrosis in Sarcoidosis: The Role of Plasma Aldosterone and Cardiac MRI.

Journal of clinical medicine
2026

Endogenous Hypersensitivity Infection: A Unifying Framework for Cutibacterium acnes-Associated Sarcoidosis.

Microorganisms
2026

Prognostic Value of Atrial Phasic Dysfunction by CMR Feature Tracking for New-Onset Atrial Fibrillation in Patients with Cardiac Sarcoidosis.

Biomedicines
2026

Association Between PET/CT Metabolic Parameters and Serum ACE and Calcium Levels in Sarcoidosis.

Diagnostics (Basel, Switzerland)
2026

A Case of Misdiagnosed Hepatic Sarcoidosis: Evaluating Ultrasound Resolution Microscopy for Differentiating Hepatic Sarcoidosis from Hepatocellular Carcinoma.

Diagnostics (Basel, Switzerland)
2026

EBUS-guided transbronchial mediastinal cryobiopsy for diagnosing non-metastatic lymphadenopathy: A randomized controlled trial.

Med (New York, N.Y.)
2026

Excellent Reproducibility of Synthetic Extracellular Volume Without Blood Extraction Across Different Cardiomyopathies Using Published Regression Models.

Journal of cardiovascular development and disease
2026

Uncovering Sex and Gender Differences in Sarcoidosis: A Systematic Review of Current Evidence.

Journal of personalized medicine
2026

Hepatic granulomas heralding eosinophilic granulomatosis with polyangiitis overlapping with Sjögren's syndrome.

Hepatology forum
2026

Diffuse leptomeningeal enhancement with optic nerve involvement in a patient with intracranial hypertension as the inaugural symptom of neurosarcoidosis.

Oxford medical case reports
2026

Autoimmune Disorders Affecting the Larynx: Review of Laryngoscopic Findings and Approach to Multidisciplinary Management.

The Annals of otology, rhinology, and laryngology
2026

Acute Hypoxemic Respiratory Failure as the Initial Manifestation of Alveolar Sarcoidosis: A Rare Case Report.

Annals of African medicine
2025

Endobronchial ultrasound-guided transbronchial mediastinal cryobiopsy versus transbronchial needle aspiration for diagnosing sarcoidosis: A randomized controlled trial.

Endoscopic ultrasound
2026

Considering molecular pharmacology for sarcoidosis treatment.

The Lancet. Respiratory medicine
2026

Burden of chronic respiratory disease in Asia, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

The Lancet. Respiratory medicine
2026

Patterns and trends in sarcoidosis: an epidemiological perspective.

Current opinion in immunology
2026

A retrospective multicenter cohort study of patients with sarcoidosis and renal involvement.

BMC nephrology
2026

Heerfordt's syndrome with glossopharyngeal and vagus nerve involvement: A rare manifestation of sarcoidosis.

QJM : monthly journal of the Association of Physicians
2026

Pulmonary hypertension in a distinct IgG4-high phenotype of sarcoidosis: A case series.

Journal of the National Medical Association
2025

[Cavum: an exceptional location for sarcoidosis].

La Revue du praticien
2026

Neurosarcoidosis with Recurrent Cranial Neuropathies as Primary Presentation: A Case Report.

Annals of neurosciences
Ver todos os 21.602 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Sarcoidose e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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

A sarcoidose é uma doença que atinge diversos sistemas do corpo humano, caracterizada pelo desenvolvimento de granulomas inflamatórios em vários órgãos. A condição tem causa primária desconhecida e pode se iniciar em qualquer idade, abrangendo da infância até a fase idosa.

Referências

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

10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. Neurosarcoidosis-like reaction under TNF-α inhibitors: a case report and literature review of a paradoxical immune phenomenon.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026PMID 41838193
  2. ORPHA:797
    Orphanet
  3. GARD:7607
    GARD (NIH)
  4. Q193894
    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. (s.d.). Sarcoidose. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sarcoidose

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

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Sarcoidose
Compêndio · Raras BR

Sarcoidose

ORPHA:797 · MONDO:0019338
Prevalência
1-5 / 10 000
Herança
Multigenic/multifactorial
CID-10
D86.0 · Sarcoidose do pulmão
CID-11
Ensaios
72 ativos
Medicamentos
10 registrados
Início
Adolescent, Adult, Childhood, Elderly
Prevalência
60.0 (United States)
MedGen
UMLS
C0036202
Wikidata
Wikipedia
Papers 10a

📋 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
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Alvos terapêuticos
fonte: OpenTargets
Rara