# Esclerose sistêmica cutânea difusa

> Página oficial: https://raras.org/doenca/esclerose-sistemica-cutanea-difusa
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 220393 — https://www.orpha.net/en/disease/detail/220393
- **CID-10**: M34.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A esclerose sistémica cutânea difusa (dcSSc) é um subtipo de esclerose sistémica (SSc; ver este termo), caracterizada por fibrose da pele do tronco e acral com uma incidência precoce e significativa de envolvimento difuso (doença intersticial pulmonar, insuficiência renal oligúrica, doença gastrointestinal difusa, e envolvimento do miocárdio).

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Multigenic/multifactorial, Not applicable

## Sinais e sintomas (26 fenótipos HPO)

- **Dispareunia** — HPO: HP:0030016 (Frequente (79-30%))
- **Fraqueza muscular** — HPO: HP:0001324 (Frequente (79-30%))
- **Oligúria** — HPO: HP:0100520 (Muito frequente (99-80%))
- **Insuficiência cardíaca congestiva** — HPO: HP:0001635 (Ocasional (29-5%))
- **Disfagia** — HPO: HP:0002015 (Frequente (79-30%))
- **Crise hipertensiva** — HPO: HP:0100735 (Ocasional (29-5%))
- **Hipertensão arterial pulmonar** — HPO: HP:0002092 (Ocasional (29-5%))
- **Artralgia** — HPO: HP:0002829 (Frequente (79-30%))
- **Sons intestinais anormais** — HPO: HP:0030142 (Ocasional (29-5%))
- **Autoimunidade** — HPO: HP:0002960 (Muito frequente (99-80%))
- **Náusea e vômito** — HPO: HP:0002017 (Ocasional (29-5%))
- **Insuficiência renal** — HPO: HP:0000083 (Ocasional (29-5%))
- **Telangiectasia da pele** — HPO: HP:0100585 (Frequente (79-30%))
- **Anormalidade da pele** — HPO: HP:0000951 (Muito frequente (99-80%))
- **Artrite** — HPO: HP:0001369 (Frequente (79-30%))
- **Dentes cariados** — HPO: HP:0000670 (Frequente (79-30%))
- **Forame obturatório estreito** — HPO: HP:0100958 (Muito frequente (99-80%))
- **Má absorção** — HPO: HP:0002024 (Frequente (79-30%))
- **Úlcera cutânea** — HPO: HP:0200042 (Frequente (79-30%))
- **Fibrose pulmonar** — HPO: HP:0002206 (Frequente (79-30%))
- **Xerostomia** — HPO: HP:0000217 (Frequente (79-30%))
- **Refluxo gastroesofágico** — HPO: HP:0002020 (Muito frequente (99-80%))
- **Contratura em flexão** — HPO: HP:0001371 (Frequente (79-30%))
- **Osteólise** — HPO: HP:0002797 (Frequente (79-30%))
- **Infiltrados pulmonares** — HPO: HP:0002113 (Muito frequente (99-80%))
- **Dispneia** — HPO: HP:0002094 (Muito frequente (99-80%))

## Genes associados (5)

- **CAV1** — Caveolin-1 [Major susceptibility factor in]
  - Função: May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the
- **CCR6** — C-C chemokine receptor-like 2 [Major susceptibility factor in]
  - Função: Receptor for CCL19 and chemerin/RARRES2. Does not appear to be a signaling receptor, but may have a role in modulating chemokine-triggered immune responses by capturing and internalizing CCL19 or by p
- **IRF5** — Interferon regulatory factor 5 [Major susceptibility factor in]
  - Função: Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like re
- **HLA-DRB1** — HLA class II histocompatibility antigen, DRB1 beta chain [Major susceptibility factor in]
  - Função: A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting c
- **CCN2** — CCN family member 2 [Major susceptibility factor in]
  - Função: Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Is involved in the stimulation of osteoblast differentiation

## Ensaios clínicos ativos (19)

- **NCT07287670** [RECRUITING]: EncompaSSc: Evaluation of MTX-474 in Participants With Diffuse Cutaneous Systemic Sclerosis (dcSSc) — https://clinicaltrials.gov/study/NCT07287670
- **NCT07473154** [RECRUITING]: Controlling Hyperactive Immunity With Long-lived Lymphocytes — https://clinicaltrials.gov/study/NCT07473154
- **NCT07047690** [RECRUITING]: A Study of Nemolizumab for the Treatment of Adults With Systemic Sclerosis — https://clinicaltrials.gov/study/NCT07047690
- **NCT03844061** [RECRUITING]: Belimumab and Rituximab Combination Therapy for the Treatment of Diffuse Cutaneous Systemic Sclerosis — https://clinicaltrials.gov/study/NCT03844061
- **NCT06470048** [RECRUITING]: A Clinical Study to Evaluate Ianalumab in Participants With Diffuse Cutaneous Systemic Sclerosis — https://clinicaltrials.gov/study/NCT06470048
- **NCT06925542** [RECRUITING]: A Safety and Efficacy Study Evaluating CTX112 in Adult Subjects With Refractory Autoimmune Disease — https://clinicaltrials.gov/study/NCT06925542
- **NCT03630211** [RECRUITING]: Autologous Stem Cell Transplantation in Patients With Systemic Sclerosis — https://clinicaltrials.gov/study/NCT03630211
- **NCT07000916** [RECRUITING]: Medical Follow-up of New Cases of Polyarthritis in Children and Young Adults — https://clinicaltrials.gov/study/NCT07000916
- **NCT06936215** [RECRUITING]: Safety and Efficacy of Baricitinib on Skin Tightening in Diffuse Cutaneous Systemic Sclerosis: A Comparative Study With Methotrexate — https://clinicaltrials.gov/study/NCT06936215
- **NCT06375005** [RECRUITING]: Efficacy and Safety of Telitacicept in the Treatment of Systemic Sclerosis — https://clinicaltrials.gov/study/NCT06375005

## Doenças relacionadas (por similaridade fenotípica)

- [Esclerodermia](https://raras.org/doenca/esclerodermia) — ORPHA:801 — 26 sintomas em comum
- [Esclerose sistêmica](https://raras.org/doenca/esclerose-sistemica) — ORPHA:90291 — 26 sintomas em comum
- [Miopatia e fasciite inflamatórias adquiridas](https://raras.org/doenca/miopatia-e-fasciite-inflamatorias-adquiridas) — ORPHA:98482 — 13 sintomas em comum
- [Vasculite associada a anticorpos anti-neutrófilo citoplasmáticos (ANCA)](https://raras.org/doenca/vasculite-associada-a-anticorpos-anti-neutrofilo-citoplasmaticos-anca) — ORPHA:156152 — 13 sintomas em comum
- [Granulomatose com poliangeíte](https://raras.org/doenca/granulomatose-com-poliangeite) — ORPHA:900 — 12 sintomas em comum
- [Polimiosite](https://raras.org/doenca/polimiosite) — ORPHA:732 — 12 sintomas em comum
- [Doença do enxerto versus hospedeiro](https://raras.org/doenca/doenca-do-enxerto-versus-hospedeiro) — ORPHA:39812 — 10 sintomas em comum
- [Dermatomiosite](https://raras.org/doenca/dermatomiosite) — ORPHA:221 — 10 sintomas em comum
- [Complicação após transplante de órgão](https://raras.org/doenca/complicacao-apos-transplante-de-orgao) — ORPHA:306644 — 10 sintomas em comum
- [Doença enxerto versus hospedeiro, crônica](https://raras.org/doenca/doenca-enxerto-versus-hospedeiro-cronica) — ORPHA:99921 — 10 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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