Introdução
O que você precisa saber de cara
Na medicina, desmoplasia é o crescimento de tecido conjuntivo fibroso. Também é chamada de reação desmoplásica para enfatizar que é secundária a uma agressão. A desmoplasia pode ocorrer ao redor de uma neoplasia, causando fibrose densa em torno do tumor, ou como tecido cicatricial (aderências) dentro do abdômen após cirurgia abdominal.
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
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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)
🇧🇷 Atendimento SUS — Perineurioma esclerosante
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Sclerosing perineurioma of the anterior chest wall in an active Caucasian toddler: a case report.
Perineurioma is a rare benign tumor of the peripheral nerve sheath, encompassing intraneural, traditional soft tissue, reticular, and sclerosing variants. Sclerosing perineurioma is a rare variation that predominantly manifests on the hands of young adults, presenting as a tiny, painless subcutaneous tumor. The incidence of pediatric perineurioma is very low, with only a few dozen cases reported in the literature. The primary cause for appointments at the outpatient clinic is a gradually enlarging asymptomatic tumor. The affected areas usually include the thumb (acral location). The lesions are typically solid, well-defined white masses with a fibrous texture, measuring 1.2-4.0 cm in maximum dimension. We present a 2-year-6-month-old male with a sclerosing perineurioma of the left anterior chest wall and delineate the lesion's ultrasonographic and pathological characteristics. This case report illustrates an almost unique pediatric instance of sclerosing perineurioma of the left anterior chest with additional, previously unreported imaging progression since birth. This case report is critical for general pediatrics and pediatric radiology. A description of this case aids in diagnosing extra-acral features of this tumor. Moreover, this case report may improve understanding of the imaging-pathology correlation of this tumor, benefiting both specialists and fellows.
Sclerosing Perineurioma of the Orbit.
A 7-week-old boy presented to pediatric ophthalmology with a mass inferior to the medial canthus of the OS that was first noticed on day 3 of life. Crigler massages, warm compresses, and moxifloxacin HCl drops were administered without resolution of symptoms. Probing and irrigation for a presumed dacryocystocele were performed, but the nasolacrimal system was patent, and the mass persisted after the procedure. Oculoplastics was consulted for further evaluation and management. On exam, the tear lake was normal, there was no discharge to palpation of either lacrimal sac, and there was no erythema. An MRI was obtained that showed a mass with nonspecific features abutting the lacrimal sac. A gross total resection of the mass was performed, and it was sent for histopathologic evaluation. Pathology results yielded a diagnosis of sclerosing perineurioma, a rare soft tissue tumor previously unreported in the orbit.
Extraneural Sclerosing Perineurioma of the Tongue.
Perineurioma (PN) is an uncommon benign peripheral nerve sheath tumor. For the rarity of this tumor in the oral cavity, otolaryngologists and oral surgeons might not be familiar with this entity. Perineuriomas are typically benign and complete excision is deemed adequate management. Thus, their histological recognition is mandatory to avoid unnecessary overtreatment. We report the clinicopathologic findings of an uncommon variant, the Extraneural Sclerosing PN, in an unusual and never described site, the tongue.
Mesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".
In the past decade, there have been major advances in knowledge related to mesenchymal tumors, and new genetic alterations are being delineated. We report a mesenchymal spindle cell neoplasm harboring a novel gene fusion in an infant. Histopathologically, the neoplasm shared some features with sclerosing perineurioma, but immunohistochemically, EMA was negative, whereas GLUT1, NK1-C3, and BCOR were positive. Next-generation sequencing revealed a PCMTD1-pleomorphic adenoma gene 1 (PLAG1) fusion. PLAG1 contributes to the expression of a variety of genes implicated in regulating cell proliferation, and PCMTD1 has been related to the development of certain carcinomas. Recently, other soft tissue tumors in young children associated with PLAG1 fusion variants have been reported. Perhaps, mesenchymal neoplasms presenting PLAG1 fusions with different genes would confirm a specific group (PLAG mesenchymal tumours or "plagomas") in the near future.
Sclerosing Perineurioma: a Rare Cause of Thumb Mass.
Publicações recentes
Sclerosing perineurioma of the anterior chest wall in an active Caucasian toddler: a case report.
Sclerosing Perineurioma of the Orbit.
Sclerosing Perineurioma: a Rare Cause of Thumb Mass.
Sclerosing perineurioma: a rare benign tumor in a pediatric patient.
[Sclerosing perineurioma of the left hand middle finger: report of a case].
📚 EuropePMC30 artigos no totalmostrando 14
Sclerosing perineurioma of the anterior chest wall in an active Caucasian toddler: a case report.
Translational pediatricsSclerosing Perineurioma of the Orbit.
Ophthalmic plastic and reconstructive surgerySclerosing Perineurioma: a Rare Cause of Thumb Mass.
Journal of general internal medicineSclerosing perineurioma: a rare benign tumor in a pediatric patient.
Dermatology online journal[Sclerosing perineurioma of the left hand middle finger: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".
The American Journal of dermatopathologyExtraneural Sclerosing Perineurioma of the Tongue.
Ear, nose, & throat journalPenile pacinian neurofibroma.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaThe differential diagnosis between sclerotic fibroma and sclerosing perineurioma: An unresolved challenge.
Journal of cutaneous pathologyLeft Supraclavicular Swelling: Sclerosing Perineurioma.
The Eurasian journal of medicineA Sclerosing Perineurioma With Collagen Rosette Formation: Benign Mimic of Low-Grade Fibromyxoid Sarcoma.
International journal of surgical pathologyExtra-acral cutaneous sclerosing perineurioma with CD34 fingerprint pattern.
Journal of cutaneous pathologyBroadening the Anatomic Landscape of Sclerosing Perineurioma: A Series of 5 Cases in Nonacral Sites.
The American Journal of dermatopathology[Sclerosing acral skin perineurioma: clinicopathologic study of ten cases (eight classical and two with xanthomatous changes)].
Gaceta medica de MexicoAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Perineurioma esclerosante.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Perineurioma esclerosante
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
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.
- Sclerosing perineurioma of the anterior chest wall in an active Caucasian toddler: a case report.
- Sclerosing Perineurioma of the Orbit.
- Extraneural Sclerosing Perineurioma of the Tongue.
- Mesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".
- Sclerosing Perineurioma: a Rare Cause of Thumb Mass.
- Sclerosing perineurioma: a rare benign tumor in a pediatric patient.
- [Sclerosing perineurioma of the left hand middle finger: report of a case].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:100001(Orphanet)
- MONDO:0015030(MONDO)
- GARD:19729(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785197(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
