Raras
Buscar doenças, sintomas, genes...
Doença sobreposta do tecido conjuntivo
ORPHA:251312CID-10 · M35.1DOENÇA RARA

A unha é uma estrutura composta por queratina presente na ponta dos dedos da maioria dos vertebrados terrestres. É produzida por glândulas em sua base que secretam grossas camadas de queratina, que se mantêm aderidas à pele até a sua extremidade.

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Introdução

O que você precisa saber de cara

📋

Doença rara caracterizada por sobreposição de manifestações de diferentes doenças do tecido conjuntivo, como úlceras orais, miocardite, nefropatia membranosa e osteólise, associada a mutações no gene FBN1. Apresenta um espectro de sintomas que podem incluir cefaleia, hemorragia gastrointestinal e hipertensão pulmonar.

Publicações científicas
11 artigos
Último publicado: 2026 Jan
Medicamentos
7 registrados
IMIQUIMOD, IMATINIB MESYLATE, DUPILUMAB

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7 medicamentos registrados
Ver detalhes, fases e interações →
IMIQUIMODIMATINIB MESYLATEDUPILUMABCRISABOROLEIMATINIBSARILUMABCALCIPOTRIENE
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M35.1
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
9 sintomas
❤️
Coração
7 sintomas
🩸
Sangue
6 sintomas
🫁
Pulmão
5 sintomas
🫘
Rins
4 sintomas
🫃
Digestivo
4 sintomas

+ 31 sintomas em outras categorias

Características mais comuns

Úlcera oral
Miocardite
Nefropatia membranosa
Peristaltismo esofágico ineficaz
Tempo de sangramento prolongado
Osteólise
78sintomas
Sem dados (78)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 78 características clínicas mais associadas, ordenadas por frequência.

Úlcera oralOral ulcer
MiocarditeMyocarditis
Nefropatia membranosaMembranous nephropathy
Peristaltismo esofágico ineficazIneffective esophageal peristalsis
Tempo de sangramento prolongadoProlonged bleeding time

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico11PubMed
Últimos 10 anos5publicações
Pico20162 papers
Linha do tempo
2026Hoje · 2026🧪 2008Primeiro 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

1 gene identificado com associação a esta condição.

FBN1Fibrillin-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, PubMed:1860873). Fibrillin-1-containing microfibrils provide long-term force bearing structural support (PubMed:27026396). In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin (PubMed:27026396). In

LOCALIZAÇÃO

SecretedSecreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Marfan syndrome

A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
295.9 TPM
Artéria coronária
63.8 TPM
Aorta
63.1 TPM
Tecido adiposo
54.3 TPM
Esôfago - Junção
48.0 TPM
OUTRAS DOENÇAS (14)
geleophysic dysplasia 2Weill-Marchesani syndrome 2, dominantMASS syndromeectopia lentis 1, isolated, autosomal dominant
HGNC:3603UniProt:P35555

Medicamentos e terapias

IMIQUIMODPhase 3

Mecanismo: Toll-like receptor 7 agonist

IMATINIB MESYLATEPhase 2

Mecanismo: Tyrosine-protein kinase ABL inhibitor

DUPILUMABPhase 2

Mecanismo: Interleukin-4 receptor subunit alpha antagonist

CRISABOROLEPhase 2

Mecanismo: Phosphodiesterase 4 inhibitor

IMATINIBPhase 2

Mecanismo: Platelet-derived growth factor receptor beta inhibitor

SARILUMABPhase 1

Mecanismo: Interleukin-6 receptor alpha subunit antagonist

CALCIPOTRIENEPhase 0.5

Mecanismo: Vitamin D receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

4,741 variantes patogênicas registradas no ClinVar.

🧬 FBN1: NM_000138.5(FBN1):c.4210+1G>C ()
🧬 FBN1: NM_000138.5(FBN1):c.1147+5G>A ()
🧬 FBN1: NM_000138.5(FBN1):c.6629_6639del (p.Cys2210fs) ()
🧬 FBN1: NM_000138.5(FBN1):c.7828G>T (p.Glu2610Ter) ()
🧬 FBN1: NM_000138.5(FBN1):c.3713A>C (p.Asp1238Ala) ()
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.
3Fase 33
2Fase 25
1Fase 11
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 7 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Doença sobreposta do tecido conjuntivo

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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

0 ensaios clínicos encontrados.

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

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
5 papers (10 anos)
#1

Atypical Interplay of Dermatomyositis, Metastatic Caecal Carcinoma, and Connective Tissue Disease.

Cureus2026 Jan

This report presents the case of a 71-year-old Chinese female with atypical symptoms leading to the diagnosis of metastatic caecal adenocarcinoma with overlapping connective tissue disease, initially identified as possible paraneoplastic dermatomyositis. The patient, with no significant medical history, was referred for elevated serum creatine kinase (CK) levels and exhibited progressive lethargy, upper limb weakness, and notable weight loss over three months. Clinical examination revealed violaceous rashes and significant muscle weakness, prompting a provisional diagnosis of dermatomyositis. However, extensive investigations, including computed tomography (CT) imaging and colonoscopy, uncovered metastatic disease characterized by peritoneal collections and a caecal tumor. The autoimmune panel indicated elevated anti-ribonucleoprotein (anti-RNP), anti-Sjögren's Syndrome A/Ro (anti-SSA/Ro), anti-topoisomerase I (anti-Scl-70), and anti-Ku antibodies, while key cancer-associated myositis markers were absent. This scenario highlights the complex interplay between malignancy and autoimmunity, emphasizing the necessity for a multidisciplinary approach in diagnostic evaluation. The findings advocate for heightened awareness of malignancy in older adults presenting with inflammatory myopathy, as timely diagnosis and intervention are critical in reducing morbidity and mortality associated with malignancies.

#2

Seroconversion of SSA and the Development of Inflammatory Myositis in a Patient With Chronic Joint Pain: A Potential Overlap Connective Tissue Disease.

Cureus2025 Sep

We present the case of a 48-year-old female with a complex medical history, including chronic joint pain on methadone and chronic obstructive pulmonary disease (COPD), who developed right forearm myositis following a series of orthopedic procedures and infections. Initially thought to be infectious in origin, subsequent investigations revealed chronic inflammation without infection. The patient's serologic profile evolved over time, with new-onset SSA antibody positivity, positive antinuclear antibody (ANA) and rheumatoid factor (RF), and concern for overlapping connective tissue disease. This case highlights the diagnostic complexity and evolving nature of autoimmune conditions, particularly in patients with non-specific musculoskeletal symptoms and comorbidities.

#3

Overlapping Connective Tissue Disease-Polymyositis and Diffuse Systemic Scleroderma: A Case Report.

Clinical medicine insights. Arthritis and musculoskeletal disorders2025

Polymyositis with concomitant scleroderma is a rare, progressive condition with profound consequences if not addressed promptly. Severity and symptom presentation varies between patients, and much is unknown about how best to treat overlapping connective tissue diseases. This case discusses the rare presentation, medical evaluation, and successful treatment of a 46-year-old woman with excessive muscle atrophy, weakness, and tissue fibrosis, who was diagnosed with overlapping connective tissue disorder after extensive work up that included a muscle biopsy, skin punch biopsy, and autoantibody lab work. This patient recovered well with the use of mycophenolate mofetil demonstrating promising results for similar patients and offering insight into potential methods of evaluation and medical management. Studying cases like this one give providers more knowledge about overlapping connective tissue disease and how to best diagnose and manage them.

#4

Colonic vasculopathy and perforation in the initial presentation of adult dermatomyositis in a patient with improving muscle weakness.

BMJ case reports2016 Jan 12

A 63-year-old woman with diabetes presented with 8 weeks of proximal muscle weakness and change in bowel habits. Muscle biopsy confirmed myositis, and serological studies were consistent with dermatomyositis (DM), without evidence of overlapping connective tissue disease or malignancy. On day 12 of prednisone therapy and after receiving one dose of IVIG with improvement in muscle strength, the patient developed abdominal pain and was diagnosed with a gastrointestinal (GI) perforation and peritonitis requiring emergent colectomy. The pathology revealed diffuse mucosal ulceration, prominent lymphoplasmacytic infiltration, venous occlusion and arterial hyperplasia. Although GI manifestations due to GI vasculopathy are rare in adult DM and are often a delayed complication, in this patient, it was one of the initial manifestations of this condition. In addition to being a fatal complication, clinicians should be aware of these complications, as immunosuppression used to control the muscular and cutaneous inflammation may not control the GI vasculopathy.

#5

Eosinophilic gastrointestinal disorders associated with autoimmune connective tissue disease.

Joint bone spine2016 Oct

To determine the clinical and pathological characteristics of eosinophilic gastrointestinal disease (EGID) associated with autoimmune connective tissue disease (CTD). Systematic literature review. Twenty cases of CTD associated with EGID were identified. Systemic lupus erythematosus was the main EGID-associated CTD (35%), followed by rheumatoid arthritis (20%), systemic sclerosis or inflammatory myopathies (15%, each), and Sjögren's syndrome, scleromyositis or other overlapping connective tissue disease (5%, each). No patient had a history of atopy. In contrast with classical EGID among which eosinophilic esophagitis is the most frequent type, eosinophilic gastritis and/or enteritis represented 95% of cases. Gastrointestinal symptoms were often unspecific. Peripheral eosinophilia was found in 67% of cases. Upper and lower gastrointestinal endoscopy showed abnormal findings in only 40% and 30% of cases, respectively. EGID was confirmed by evidence of digestive eosinophilic infiltration, mainly in mucosal or submucosal layer. In all but one patient, the CTD was diagnosed prior to the occurrence of the EGID. In total, 95% of EGID had a favorable outcome, with corticosteroids being used in almost all cases. Clinicians should consider EGID as a possible diagnosis and perform gastrointestinal tract biopsies in patients with CTD presenting with gastrointestinal symptoms and unexplained eosinophilia. Conversely, more rarely extra-digestive features during follow-up in patients with EGID may lead to a diagnosis of an associated CTD. More research is needed to better understand the underlying pathophysiological processes leading to eosinophilic gastrointestinal infiltration in patients with CTD.

Publicações recentes

Ver todas no PubMed

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Doença sobreposta do tecido conjuntivo

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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. Atypical Interplay of Dermatomyositis, Metastatic Caecal Carcinoma, and Connective Tissue Disease.
    Cureus· 2026· PMID 41635383mais citado
  2. Seroconversion of SSA and the Development of Inflammatory Myositis in a Patient With Chronic Joint Pain: A Potential Overlap Connective Tissue Disease.
    Cureus· 2025· PMID 41058845mais citado
  3. Overlapping Connective Tissue Disease-Polymyositis and Diffuse Systemic Scleroderma: A Case Report.
    Clinical medicine insights. Arthritis and musculoskeletal disorders· 2025· PMID 40918607mais citado
  4. Colonic vasculopathy and perforation in the initial presentation of adult dermatomyositis in a patient with improving muscle weakness.
    BMJ case reports· 2016· PMID 26759443mais citado
  5. Eosinophilic gastrointestinal disorders associated with autoimmune connective tissue disease.
    Joint bone spine· 2016· PMID 26709253mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:251312(Orphanet)
  2. MONDO:0016663(MONDO)
  3. GARD:20696(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)

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

Doença sobreposta do tecido conjuntivo

ORPHA:251312 · MONDO:0016663
CID-10
M35.1 · Outras síndromes superpostas
Medicamentos
7 registrados
MedGen
UMLS
C1858556
EuropePMC
Wikipedia
Papers 10a
Evidência
🥉 Relato de caso
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