É um crescimento (massa) benigno, ou seja, não canceroso, que aparece em diversos lugares, como nódulos com bordas nítidas. Geralmente é encontrado já ao nascer ou durante o primeiro ano de vida. Ele apresenta um padrão de desenvolvimento em duas fases e é composto por: células jovens e não especializadas do tipo mesenquimal, que estão associadas a vasos sanguíneos finos e ramificados; e também por células do crescimento mais maduras e alongadas, que possuem muito citoplasma (o conteúdo interno da célula) de tom rosado, tudo isso em um tecido de suporte feito de colágeno.
Introdução
O que você precisa saber de cara
É um crescimento (massa) benigno, ou seja, não canceroso, que aparece em diversos lugares, como nódulos com bordas nítidas. Geralmente é encontrado já ao nascer ou durante o primeiro ano de vida. Ele apresenta um padrão de desenvolvimento em duas fases e é composto por: células jovens e não especializadas do tipo mesenquimal, que estão associadas a vasos sanguíneos finos e ramificados; e também por células do crescimento mais maduras e alongadas, que possuem muito citoplasma (o conteúdo interno da célula) de tom rosado, tudo isso em um tecido de suporte feito de colágeno.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.
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
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth
Cell membraneCytoplasmic vesicleLysosome lumen
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)
Cell membraneNucleus
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1
A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Variantes genéticas (ClinVar)
766 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 465 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
14 vias biológicas associadas aos genes desta condição.
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 — Miofibromatose da infância
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
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.
Infantile myofibromatosis is a rare fibrous tumor that typically presents during infancy or early childhood. We describe a 4-year-old boy with a history of multicentric infantile myofibromatosis who presented with new-onset right-sided proptosis. Magnetic resonance imaging (MRI) demonstrated an expansile intracranial lesion arising from the greater wing of the sphenoid bone, producing mass effect at the right orbital apex and compressing the optic nerve. Histopathologic examination of a biopsy specimen confirmed a myofibroma with associated reactive bone changes. Over a 36-month follow-up period, serial MRI studies showed gradual spontaneous regression of the orbital lesion. Although orbital involvement in infantile myofibromatosis is uncommon, prompt recognition and timely consideration of surgical or pharmacologic intervention are warranted. This case underscores the potential for spontaneous regression of orbital myofibroma following limited surgical management.
Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra-deep sequencing approach in multiple tissues and review the literature about this topic in order to discuss new diagnostic paradigms. In the first case, further testing was prompted by the presence of angiomyolipomas in the otherwise unaffected 51-year-old father of a woman diagnosed with TSC2; the familial pathogenic variant was present with a very low VAF in angiomyolipoma tissue and peripheral blood. The second case, a 17-year-old boy diagnosed with infantile myofibromatosis, presented dermatological and brain MRI findings suggestive of TSC; a TSC1 pathogenic variant was first identified on DNA extracted from angiofibroma biopsy, and then confirmed on non-lesional skin, peripheral blood, and saliva. The identification of the causative TSC1/2 variant is crucial to provide appropriate management and genetic counseling for family planning. Most mosaic individuals in the literature have cutaneous features of TSC; in the presence of an accessible lesion, we recommend considering a tissue biopsy to have a higher chance of identifying a low-level mosaicism.
Non-operative management of an infantile myofibroma in the palm.
Infantile myofibromatosis is a rare benign neoplastic condition that may regress with age. We present a case of a palmar myofibroma managed with biopsy and observation, showing spontaneous regression after 9 years.Level of evidence: V.
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
Platelet-derived growth factor receptor-beta (PDGFRβ) is a receptor tyrosine kinase that plays significant roles in cell growth, proliferation, and differentiation. Germline variants of PDGFRB can lead to several different diseases, e.g. infantile myofibromatosis, Kosaki overgrowth syndrome, Penttinen premature aging syndrome, ocular pterygium - digital keloid dysplasia, primary familial brain calcification, and others. Some variants cause the kinase to be constitutively active, even in the absence of ligand, while others lead to inactivation of signaling transduction mechanisms. Constitutive activation of PDGFRβ leads to increased cell growth, proliferation, and differentiation, which can lead to the development of tumors or other abnormal growths. The development of new therapies that target PDGFRβ is an active area of research, primarily in cancer treatment. However, these therapies have the potential to also provide effective treatment options for patients with germline variants of PDGFRB. Here, we provide a summary of recurrent activating germline variants reported in PDGFRB and examine their sensitivity to different tyrosine kinase inhibitors. We show that the respective amino acid substitutions respond differently to treatment with tyrosine kinase inhibitors that correlate with previous in vivo data. Our data may assist healthcare providers when deciding personalized treatment of patients with disorders associated with activating variants in PDGFRB.
Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.
This report describes the case of a 25-year-old female patient with multicentric infantile myofibromatosis since early infancy, superficial capillary malformations and congenital hypoplasia of the third and fourth finger of her right hand. All known lesions were located in the upper extremities, the chest and the upper back. A pathogenic, gain-of-function platelet-derived growth factor receptor-beta (PDGFRB) variant (p.N666K, c.1998 C > A) was detected in two myofibromas and in a capillary malformation on the upper back, but not in DNA obtained from blood mononuclear cells. Thus, PDGFRB mosaicism appears to account for the patient's myofibromas and capillary malformations, supporting a broad spectrum of PDGFRB-driven anomalies ranging from myofibromas to vascular malformations.
Publicações recentes
Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.
Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
Solitary infantile myofibromatosis presenting as multiple subcutaneous lesions: a case report.
Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.
📚 EuropePMC279 artigos no totalmostrando 119
Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.
Orbit (Amsterdam, Netherlands)Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
American journal of medical genetics. Part AVariable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
European journal of human genetics : EJHGSolitary infantile myofibromatosis presenting as multiple subcutaneous lesions: a case report.
Journal of medical case reportsTreatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.
American journal of medical genetics. Part C, Seminars in medical geneticsInfantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.
Molecular and cellular pediatricsMulticentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.
Italian journal of pediatricsInfantile myofibromatosis in a 1-month-old male from Pakistan: A case report.
SAGE open medical case reportsTemperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.
Human mutationInfantile myofibromatosis of the forearm: A case report and literature review.
Radiology case reportsNon-operative management of an infantile myofibroma in the palm.
The Journal of hand surgery, European volumeInfantile myofibromatosis: Small bumps pose big problems.
Journal of neonatal-perinatal medicineNovel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis.
Genes, chromosomes & cancerA germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Genetics in medicine : official journal of the American College of Medical GeneticsPneumothorax revealing late recurrence of infantile myofibromatosis.
Annals of thoracic medicineA Rare Case of Infantile Myofibromatosis With Intra Cranial Involvement.
Global pediatric healthLate Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
Journal of pediatric hematology/oncologyUnresectable infantile myofibroma discovered in utero.
Pediatric dermatologyCorneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.
Ophthalmology scienceInfantile Myofibromatosis of the Femoral Neck: A Case Report.
JBJS case connectorIsolated infantile myofibroma of the calvarium: Report of a case with a literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryInfantile myofibromatosis in a 5-month-old boy.
Archives of disease in childhoodSolitary infantile myofibromatosis in the upper extremities: Case report.
Radiology case reportsPrenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.
BMC medical genomicsInfantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy.
Journal of pediatric hematology/oncologySolitary infantile myofibromatosis of the petrous bone: a diagnostic pitfall in uncommon location illustrated by a case report.
Journal of surgical case reportsCongenital Infantile Myofibroma: The Importance of Molecular Diagnosis.
CureusIntralesional 5-Fluorouracil: A Therapy for Solitary Infantile Myofibromatosis.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Generalized Infantile Myofibromatosis with Extensive Small Bowel Involvement in a Neonate.
Zeitschrift fur Geburtshilfe und NeonatologieA SAMD5-SASH1 fusion in solitary infantile myofibromatosis.
Pediatric blood & cancerGenomic analysis reveals germline and somatic PDGFRB variants with clinical implications in familial infantile myofibromatosis.
Pediatric blood & cancerPDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncNovel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring.
JCO precision oncologyA Unique Presentation of Multicentric Myofibromatosis in the Masseter Muscle of a Pediatric Patient.
Ear, nose, & throat journal[Proptosis secondary to infantile myofibromatosis in a newborn: role of the ophthalmologist from diagnosis to treatment].
Journal francais d'ophtalmologiePenttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.
Journal of cellular and molecular medicineAvoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.
Clinical case reportsInfantile myofibromatosis: multiple firm nodules in a premature newborn.
Dermatology online journalA Unique Case of Multicentric Infantile Myofibromatosis with Radiologic-Pathologic Correlation.
Children (Basel, Switzerland)Prenatally Diagnosed Infantile Myofibroma of Sartorius Muscle-A Differential for Soft Tissue Masses in Early Infancy.
Diagnostics (Basel, Switzerland)Multicentric infantile myofibromatosis with extensive involvement limited to bone.
Skeletal radiologyNeurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
American journal of medical genetics. Part AInfantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.
Pediatric blood & cancerWhat to Look Out for in a Newborn with Multiple Papulonodular Skin Lesions at Birth.
Dermatopathology (Basel, Switzerland)Congenital Myofibroblastic Skin Tumours in a Newborn Piglet Resembling the Multicentric Form of Infantile Myofibromatosis.
Journal of comparative pathologyGiant intracranial infantile myofibromatosis of the skull base: report of two cases.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAggressive infantile myofibromatosis with intestinal involvement.
Molecular and cellular pediatricsNovel COL4A1-VEGFD gene fusion in myofibroma.
Journal of cellular and molecular medicineSegmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
American journal of medical genetics. Part AProportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features.
Familial cancerPrimary Resection and Immediate Autologous Reconstruction of Fronto-orbital Infantile Myofibromatoses.
Plastic and reconstructive surgery. Global openThe infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression.
Disease models & mechanismsPDGF receptor mutations in human diseases.
Cellular and molecular life sciences : CMLSGeneralized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth.
Pediatric dermatologyAn unusual case of a solitary cardiac myofibroma causing severe right ventricular outflow tract obstruction in an infant.
Cardiology in the young[Left mandibular infantile myofibromatosis: a case report].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyDiverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Pediatric blood & cancerDiagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis.
Radiology case reportsMajor response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis.
Pediatric blood & cancerGenetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Familial cancerThe Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.
Journal of molecular neuroscience : MNActivating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
American journal of medical genetics. Part ATreatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report.
Pediatric blood & cancerKosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clinical geneticsNotch Pathway and Inherited Diseases: Challenge and Promise.
Advances in experimental medicine and biologyPrenatal imaging patterns of different forms of infantile myofibromatosis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyInfantile Myofibromatosis: 32 Patients and Review of Literature.
Journal of pediatric hematology/oncologyExtended Endonasal Endoscopic Complete Resection of a Solitary Intraorbital Myofibroma: A Case Report and Literature Review.
World neurosurgeryMassive infantile myofibromatosis of the upper lip causing airway distress in a newborn.
Auris, nasus, larynxGynecology and Oncology Fetal Myofibromatosis: A Challenge for Prenatal Diagnosis Mini Review of the English Literature.
Obstetrical & gynecological surveyNovel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.
Cold Spring Harbor molecular case studiesPDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.
American journal of medical genetics. Part AUtility of 18F-FDG PET/CT in Infantile Myofibromatosis.
Clinical nuclear medicinePrenatal sonography of multicentric infantile myofibromatosis: Case report and review of the literature.
Journal of clinical ultrasound : JCUAssociation of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.
JAMA dermatologyA novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
American journal of medical genetics. Part AInfantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap: a case report.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeFibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing.
F1000ResearchA tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
European journal of human genetics : EJHGInfantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings.
Clinical imagingEffects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis.
International journal of molecular sciencesInfantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyInfantile myofibromatosis.
Anais brasileiros de dermatologiaInfantile myofibromatosis of the iliac bone.
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesA Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures.
Pediatric emergency careSpontaneous involution (regression) of a solitary cutaneous myofibroma in an adult patient.
Journal of cutaneous pathology[Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].
Annales de dermatologie et de venereologieExpansion of the phenotype of Kosaki overgrowth syndrome.
American journal of medical genetics. Part AInfantile myofibromatosis - a clinical and pathological diagnostic challenge.
Dermatology online journalThe developmental biology of genetic Notch disorders.
Development (Cambridge, England)Myopericytomatosis: Clinicopathologic Analysis of 11 Cases With Molecular Identification of Recurrent PDGFRB Alterations in Myopericytomatosis and Myopericytoma.
The American journal of surgical pathologyHeterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.
Acta dermato-venereologicaWhole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report.
Molecular and clinical oncologyA large mediastinal tumour invading into the liver with foetal hydrops: A rare case of infantile myofibromatosis.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyPDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
Human molecular geneticsThe spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.
European journal of medical genetics"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
European journal of medical geneticsCase report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
BMC cancerMyofibromatosis: Utility of fine needle aspiration cytology in the diagnosis of an underreported entity.
Journal of cytologyA case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion.
Pediatric blood & cancerExtracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review.
European journal of pediatric surgery reportsAn unusual cause of neonatal hip dislocation: infantile myofibromatosis presenting as developmental dysplasia of the hip.
Hip international : the journal of clinical and experimental research on hip pathology and therapyPediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review.
Radiographics : a review publication of the Radiological Society of North America, IncIntracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review.
World neurosurgeryCD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors.
The Journal of dermatologyMultiple Bone Lesions in an 8-Month-Old Child Presenting with Pathologic Fracture: A Rare Case of Solely Osseous Multicentric Infantile Myofibromatosis.
JBJS case connectorMulticentric myofibromatosis presenting as a large congenital eyelid myofibroma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusInfantile myofibromatosis of uterus: A case report.
Indian journal of cancerPaediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.
The Journal of pathologySix Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report.
The Journal of hand surgeryKidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report.
Journal of medical case reportsPDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.
OncogeneSolitary, adult-onset, intraosseous myofibroma of the finger: report of a case and review of literature.
Hand (New York, N.Y.)A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
American journal of human geneticsA review of eight unusual pediatric skin and soft-tissue lesions: Diagnosis, workup, and treatment.
Journal of plastic, reconstructive & aesthetic surgery : JPRASInfantile Myofibromatosis of the Soft Palate.
The Journal of craniofacial surgeryGeneralized infantile myofibromatosis with a monophasic primitive pattern.
Pathology internationalAtypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
American journal of medical genetics. Part ASpontaneous Regression of an Infantile Scalp Tumor. Infantile myofibromatosis.
JAMA dermatologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Miofibromatose da infância.
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 Miofibromatose da infância
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
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.
- Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.
- Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
- Non-operative management of an infantile myofibroma in the palm.
- Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
- Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.
- Solitary infantile myofibromatosis presenting as multiple subcutaneous lesions: a case report.
- Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2591(Orphanet)
- MONDO:0016824(MONDO)
- GARD:2998(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6029048(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
