Raras
Buscar doenças, sintomas, genes...
Miofibromatose da infância
ORPHA:2591CID-10 · D48.1CID-11 · 2F7CDOENÇA RARA

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.

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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.

Pesquisas ativas
1 ensaio
1 total registrados no ClinicalTrials.gov
Publicações científicas
391 artigos
Último publicado: 2026 Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D48.1
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧬
Pele e cabelo
5 sintomas
🫃
Digestivo
3 sintomas
🦴
Ossos e articulações
3 sintomas
🫁
Pulmão
2 sintomas
😀
Face
1 sintomas
👁️
Olhos
1 sintomas

+ 12 sintomas em outras categorias

Características mais comuns

90%prev.
Fibroma
Muito frequente (99-80%)
90%prev.
Sarcoma
Muito frequente (99-80%)
90%prev.
Cisto ósseo
Muito frequente (99-80%)
90%prev.
Morfologia metafisária anormal
Muito frequente (99-80%)
90%prev.
Morfologia anormal da musculatura
Muito frequente (99-80%)
90%prev.
Neoplasia da pele
Muito frequente (99-80%)
29sintomas
Muito frequente (7)
Frequente (8)
Ocasional (13)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.

Fibroma
Muito frequente (99-80%)90%
Sarcoma
Muito frequente (99-80%)90%
Cisto ósseoBone cyst
Muito frequente (99-80%)90%
Morfologia metafisária anormalAbnormal metaphysis morphology
Muito frequente (99-80%)90%
Morfologia anormal da musculaturaAbnormality of the musculature
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico391PubMed
Últimos 10 anos119publicações
Pico201716 papers
Linha do tempo
2026Hoje · 2026📈 2017Ano de pico🧪 2019Primeiro 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

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.

PDGFRBPlatelet-derived growth factor receptor betaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneCytoplasmic vesicleLysosome lumen

VIAS BIOLÓGICAS (1)
Signaling by PDGF
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
398.1 TPM
Cervix Endocervix
353.6 TPM
Artéria tibial
346.2 TPM
Tecido adiposo
303.2 TPM
Artéria coronária
277.8 TPM
OUTRAS DOENÇAS (10)
myofibromatosis, infantile, 1acroosteolysis-keloid-like lesions-premature aging syndromebasal ganglia calcification, idiopathic, 4ocular pterygium-digital keloid dysplasia syndrome
HGNC:8804UniProt:P09619
NOTCH3Neurogenic locus notch homolog protein 3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

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)

LOCALIZAÇÃO

Cell membraneNucleus

VIAS BIOLÓGICAS (1)
Pre-NOTCH Processing in Golgi
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
402.5 TPM
Aorta
222.4 TPM
Artéria coronária
208.2 TPM
Tecido adiposo
157.8 TPM
Skin Sun Exposed Lower leg
145.9 TPM
OUTRAS DOENÇAS (5)
lateral meningocele syndromemyofibromatosis, infantile, 2cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1familial partial lipodystrophy, Kobberling type
HGNC:7883UniProt:Q9UM47

Variantes genéticas (ClinVar)

766 variantes patogênicas registradas no ClinVar.

🧬 NOTCH3: NM_000435.3(NOTCH3):c.1163G>A (p.Cys388Tyr) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.4003A>G (p.Ser1335Gly) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.4359C>A (p.Tyr1453Ter) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.635G>T (p.Cys212Phe) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.2292_2296+4del ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 465 variantes classificadas pelo ClinVar.

23
256
186
Patogênica (4.9%)
VUS (55.1%)
Benigna (40.0%)
VARIANTES MAIS SIGNIFICATIVAS
PDGFRB: NM_002609.4(PDGFRB):c.1A>G (p.Met1Val) [Likely pathogenic]
PDGFRB: NM_002609.4(PDGFRB):c.1154G>A (p.Arg385His) [Uncertain significance]
PDGFRB: NM_002609.4(PDGFRB):c.1548G>C (p.Gln516His) [Uncertain significance]
PDGFRB: NM_002609.4(PDGFRB):c.3186C>G (p.Ser1062Arg) [Uncertain significance]
PDGFRB: NM_002609.4(PDGFRB):c.2794G>A (p.Glu932Lys) [Uncertain significance]

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.
2Fase 21
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

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

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados, 1 ativos.

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

Timeline de publicações
121 papers (10 anos)
#1

Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.

Orbit (Amsterdam, Netherlands)2026 Apr

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.

#2

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 A2026 Apr

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.

#3

Non-operative management of an infantile myofibroma in the palm.

The Journal of hand surgery, European volume2026 Jan

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.

#4

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.

European journal of human genetics : EJHG2025 Dec

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.

#5

Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.

Molecular and cellular pediatrics2025 Jul 09

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

Ver todas no PubMed

📚 EuropePMC279 artigos no totalmostrando 119

2026

Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.

Orbit (Amsterdam, Netherlands)
2026

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 A
2025

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.

European journal of human genetics : EJHG
2025

Solitary infantile myofibromatosis presenting as multiple subcutaneous lesions: a case report.

Journal of medical case reports
2025

Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.

American journal of medical genetics. Part C, Seminars in medical genetics
2025

Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.

Molecular and cellular pediatrics
2025

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.

Italian journal of pediatrics
2025

Infantile myofibromatosis in a 1-month-old male from Pakistan: A case report.

SAGE open medical case reports
2025

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.

Human mutation
2025

Infantile myofibromatosis of the forearm: A case report and literature review.

Radiology case reports
2026

Non-operative management of an infantile myofibroma in the palm.

The Journal of hand surgery, European volume
2025

Infantile myofibromatosis: Small bumps pose big problems.

Journal of neonatal-perinatal medicine
2025

Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis.

Genes, chromosomes &amp; cancer
2025

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

Genetics in medicine : official journal of the American College of Medical Genetics
2024

Pneumothorax revealing late recurrence of infantile myofibromatosis.

Annals of thoracic medicine
2024

A Rare Case of Infantile Myofibromatosis With Intra Cranial Involvement.

Global pediatric health
2024

Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.

Journal of pediatric hematology/oncology
2024

Unresectable infantile myofibroma discovered in utero.

Pediatric dermatology
2024

Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.

Ophthalmology science
2024

Infantile Myofibromatosis of the Femoral Neck: A Case Report.

JBJS case connector
2024

Isolated 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 Neurosurgery
2024

Infantile myofibromatosis in a 5-month-old boy.

Archives of disease in childhood
2024

Solitary infantile myofibromatosis in the upper extremities: Case report.

Radiology case reports
2023

Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.

BMC medical genomics
2023

Infantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy.

Journal of pediatric hematology/oncology
2023

Solitary infantile myofibromatosis of the petrous bone: a diagnostic pitfall in uncommon location illustrated by a case report.

Journal of surgical case reports
2023

Congenital Infantile Myofibroma: The Importance of Molecular Diagnosis.

Cureus
2023

Intralesional 5-Fluorouracil: A Therapy for Solitary Infantile Myofibromatosis.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2023

Generalized Infantile Myofibromatosis with Extensive Small Bowel Involvement in a Neonate.

Zeitschrift fur Geburtshilfe und Neonatologie
2023

A SAMD5-SASH1 fusion in solitary infantile myofibromatosis.

Pediatric blood &amp; cancer
2023

Genomic analysis reveals germline and somatic PDGFRB variants with clinical implications in familial infantile myofibromatosis.

Pediatric blood &amp; cancer
2023

PDGFRB 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, Inc
2022

Novel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring.

JCO precision oncology
2025

A Unique Presentation of Multicentric Myofibromatosis in the Masseter Muscle of a Pediatric Patient.

Ear, nose, &amp; throat journal
2022

[Proptosis secondary to infantile myofibromatosis in a newborn: role of the ophthalmologist from diagnosis to treatment].

Journal francais d'ophtalmologie
2022

Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.

Journal of cellular and molecular medicine
2022

Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.

Clinical case reports
2021

Infantile myofibromatosis: multiple firm nodules in a premature newborn.

Dermatology online journal
2022

A Unique Case of Multicentric Infantile Myofibromatosis with Radiologic-Pathologic Correlation.

Children (Basel, Switzerland)
2021

Prenatally Diagnosed Infantile Myofibroma of Sartorius Muscle-A Differential for Soft Tissue Masses in Early Infancy.

Diagnostics (Basel, Switzerland)
2022

Multicentric infantile myofibromatosis with extensive involvement limited to bone.

Skeletal radiology
2022

Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.

American journal of medical genetics. Part A
2022

Infantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.

Pediatric blood &amp; cancer
2021

What to Look Out for in a Newborn with Multiple Papulonodular Skin Lesions at Birth.

Dermatopathology (Basel, Switzerland)
2021

Congenital Myofibroblastic Skin Tumours in a Newborn Piglet Resembling the Multicentric Form of Infantile Myofibromatosis.

Journal of comparative pathology
2022

Giant intracranial infantile myofibromatosis of the skull base: report of two cases.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Aggressive infantile myofibromatosis with intestinal involvement.

Molecular and cellular pediatrics
2021

Novel COL4A1-VEGFD gene fusion in myofibroma.

Journal of cellular and molecular medicine
2021

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

American journal of medical genetics. Part A
2021

Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features.

Familial cancer
2021

Primary Resection and Immediate Autologous Reconstruction of Fronto-orbital Infantile Myofibromatoses.

Plastic and reconstructive surgery. Global open
2021

The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression.

Disease models &amp; mechanisms
2021

PDGF receptor mutations in human diseases.

Cellular and molecular life sciences : CMLS
2021

Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth.

Pediatric dermatology
2021

An unusual case of a solitary cardiac myofibroma causing severe right ventricular outflow tract obstruction in an infant.

Cardiology in the young
2020

[Left mandibular infantile myofibromatosis: a case report].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2021

Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.

Pediatric blood &amp; cancer
2020

Diagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis.

Radiology case reports
2021

Major response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis.

Pediatric blood &amp; cancer
2021

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.

Familial cancer
2020

The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.

Journal of molecular neuroscience : MN
2020

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

American journal of medical genetics. Part A
2020

Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report.

Pediatric blood &amp; cancer
2020

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Clinical genetics
2020

Notch Pathway and Inherited Diseases: Challenge and Promise.

Advances in experimental medicine and biology
2020

Prenatal imaging patterns of different forms of infantile myofibromatosis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Infantile Myofibromatosis: 32 Patients and Review of Literature.

Journal of pediatric hematology/oncology
2020

Extended Endonasal Endoscopic Complete Resection of a Solitary Intraorbital Myofibroma: A Case Report and Literature Review.

World neurosurgery
2020

Massive infantile myofibromatosis of the upper lip causing airway distress in a newborn.

Auris, nasus, larynx
2019

Gynecology and Oncology Fetal Myofibromatosis: A Challenge for Prenatal Diagnosis Mini Review of the English Literature.

Obstetrical &amp; gynecological survey
2019

Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.

Cold Spring Harbor molecular case studies
2019

PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.

American journal of medical genetics. Part A
2019

Utility of 18F-FDG PET/CT in Infantile Myofibromatosis.

Clinical nuclear medicine
2019

Prenatal sonography of multicentric infantile myofibromatosis: Case report and review of the literature.

Journal of clinical ultrasound : JCU
2019

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.

JAMA dermatology
2019

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

American journal of medical genetics. Part A
2019

Infantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap: a case report.

Journal of otolaryngology - head &amp; neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
2018

Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing.

F1000Research
2019

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.

European journal of human genetics : EJHG
2019

Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings.

Clinical imaging
2018

Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis.

International journal of molecular sciences
2019

Infantile 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 Society
2017

Infantile myofibromatosis.

Anais brasileiros de dermatologia
2017

Infantile 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 Diseases
2017

A Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures.

Pediatric emergency care
2018

Spontaneous involution (regression) of a solitary cutaneous myofibroma in an adult patient.

Journal of cutaneous pathology
2017

[Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].

Annales de dermatologie et de venereologie
2017

Expansion of the phenotype of Kosaki overgrowth syndrome.

American journal of medical genetics. Part A
2017

Infantile myofibromatosis - a clinical and pathological diagnostic challenge.

Dermatology online journal
2017

The developmental biology of genetic Notch disorders.

Development (Cambridge, England)
2017

Myopericytomatosis: Clinicopathologic Analysis of 11 Cases With Molecular Identification of Recurrent PDGFRB Alterations in Myopericytomatosis and Myopericytoma.

The American journal of surgical pathology
2017

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

Acta dermato-venereologica
2017

Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report.

Molecular and clinical oncology
2017

A 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 Gynaecology
2017

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

Human molecular genetics
2017

The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.

European journal of medical genetics
2018

"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 genetics
2017

Case 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 cancer
2017

Myofibromatosis: Utility of fine needle aspiration cytology in the diagnosis of an underreported entity.

Journal of cytology
2017

A case of advanced infantile myofibromatosis harboring a novel MYH10-RET fusion.

Pediatric blood &amp; cancer
2016

Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review.

European journal of pediatric surgery reports
2016

An 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 therapy
2016

Pediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review.

Radiographics : a review publication of the Radiological Society of North America, Inc
2016

Intracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review.

World neurosurgery
2016

CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors.

The Journal of dermatology
2016

Multiple Bone Lesions in an 8-Month-Old Child Presenting with Pathologic Fracture: A Rare Case of Solely Osseous Multicentric Infantile Myofibromatosis.

JBJS case connector
2016

Multicentric myofibromatosis presenting as a large congenital eyelid myofibroma.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2015

Infantile myofibromatosis of uterus: A case report.

Indian journal of cancer
2016

Paediatric 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 pathology
2016

Six Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report.

The Journal of hand surgery
2015

Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report.

Journal of medical case reports
2016

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

Oncogene
2015

Solitary, adult-onset, intraosseous myofibroma of the finger: report of a case and review of literature.

Hand (New York, N.Y.)
2015

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

American journal of human genetics
2015

A review of eight unusual pediatric skin and soft-tissue lesions: Diagnosis, workup, and treatment.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2015

Infantile Myofibromatosis of the Soft Palate.

The Journal of craniofacial surgery
2015

Generalized infantile myofibromatosis with a monophasic primitive pattern.

Pathology international
2015

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

American journal of medical genetics. Part A
2015

Spontaneous Regression of an Infantile Scalp Tumor. Infantile myofibromatosis.

JAMA dermatology
Ver todos os 279 no EuropePMC

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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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.

  1. Infantile myofibromatosis with orbital involvement: a case presentation and review of the literature.
    Orbit (Amsterdam, Netherlands)· 2026· PMID 41528821mais citado
  2. 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 A· 2026· PMID 41486106mais citado
  3. Non-operative management of an infantile myofibroma in the palm.
    The Journal of hand surgery, European volume· 2026· PMID 40145424mais citado
  4. Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
    European journal of human genetics : EJHG· 2025· PMID 41094177mais citado
  5. Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.
    Molecular and cellular pediatrics· 2025· PMID 40632343mais citado
  6. Solitary infantile myofibromatosis presenting as multiple subcutaneous lesions: a case report.
    J Med Case Rep· 2025· PMID 40751265recente
  7. Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.
    Am J Med Genet C Semin Med Genet· 2025· PMID 40742224recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2591(Orphanet)
  2. MONDO:0016824(MONDO)
  3. GARD:2998(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Miofibromatose da infância
Compêndio · Raras BR

Miofibromatose da infância

ORPHA:2591 · MONDO:0016824
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive, Not applicable
CID-10
D48.1 · Neoplasia de comportamento incerto ou desconhecido do tecido conjuntivo e outros tecidos moles
CID-11
Ensaios
1 ativos
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0206648
EuropePMC
Wikidata
Papers 10a
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