O escleromixedema é uma doença cutânea rara e grave. Os sinais e sintomas incluem acúmulo anormal de mucina na pele (mucinose), causando inchaços papulares e esclerodermóides; aumento da produção de fibroblastos (células do tecido conjuntivo) na ausência de distúrbio da tireoide; e gamopatia monoclonal (proteínas anormais no sangue). Freqüentemente envolve órgãos internos e pode afetar vários sistemas do corpo. A causa do escleromixedema não é conhecida. Não existe um tratamento padrão. O manejo pode envolver o uso de imunoglobulina intravenosa (IVIG), plasmaférese, talidomida e corticóides, ou intervenções mais agressivas, como transplante autólogo de medula óssea.
Introdução
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O escleromixedema é uma doença cutânea rara e grave. Os sinais e sintomas incluem acúmulo anormal de mucina na pele (mucinose), causando inchaços papulares e esclerodermóides; aumento da produção de fibroblastos (células do tecido conjuntivo) na ausência de distúrbio da tireoide; e gamopatia monoclonal (proteínas anormais no sangue). Freqüentemente envolve órgãos internos e pode afetar vários sistemas do corpo. A causa do escleromixedema não é conhecida. Não existe um tratamento padrão. O manejo pode envolver o uso de imunoglobulina intravenosa (IVIG), plasmaférese, talidomida e corticóides, ou intervenções mais agressivas, como transplante autólogo de medula óssea.
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
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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)
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Scleromyxedema is a rare, chronic mucinosis characterized by widespread skin fibrosis and an associated monoclonal gammopathy. Therapeutic options remain limited. We present the case of a male in his 50s with biopsy-confirmed scleromyxedema and IgG λ monoclonal gammopathy who initially responded to intravenous immunoglobulin but later progressed despite full-dose maintenance. Due to severe pruritus and recent evidence implicating Type 2 cytokines in scleromyxedema pathogenesis, dupilumab was added to ongoing intravenous immunoglobulin. Pruritus improved within 4 months, but fibrosis remained unchanged and M-protein levels continued to rise, reaching 35.3 g/L by month 12. Dupilumab was discontinued due to lack of disease modification. Bone marrow biopsy confirmed smoldering multiple myeloma. The patient subsequently responded well to daratumumab, cyclophosphamide, bortezomib, and dexamethasone chemotherapy and autologous stem cell transplant. This case illustrates the potential for IL-4Rα blockade to control symptoms such as pruritus in scleromyxedema, but underscores the need for plasma cell-directed therapy to address the underlying disease process.
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📚 EuropePMC342 artigos no totalmostrando 191
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Zeitschrift fur Rheumatologie[Dermatopathology histoseminar. Interstitial granuloma annulare, case 8].
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Journal of the European Academy of Dermatology and Venereology : JEADVAssociações
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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.
- Scleromyxedema Managed With High-Dose Intravenous Immunoglobulin and Bortezomib-Dexamethasone: A Case Report.
- Dupilumab improves itch, but not fibrosis, in a patient with scleromyxedema: A case report.
- Monoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.
- Diffuse waxy papules and dermal mucin in skin of color: A case of scleromyxedema.
- Discrete papular lichen myxedematosus successfully treated with isotretinoin.
- Treatment of scleromyxedema Arndt-Gottron with a novel intravenous immunoglobulin preparation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:167635(Orphanet)
- MONDO:0015665(MONDO)
- GARD:7615(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q17144875(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
