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Infantile_Myofibromatosis

1. Disease Information

2026-04-04
Falcon MONDO:0009227 Model: Edison Scientific Literature 54 citations

1. Disease Information

1.1 Overview / definition (current understanding)

Infantile myofibromatosis is a (generally) benign, non-metastasizing myofibroblastic/perivascular tumor disorder characterized by formation of nodules in skin/subcutis, skeletal muscle, and bone, and less commonly visceral organs; visceral involvement drives most severe outcomes. (lu2023prenatalgeneticdiagnosis pages 1-2, martignetti2013mutationsinpdgfrb pages 1-3)

A widely used clinical classification distinguishes: (i) solitary IM, (ii) multicentric IM without visceral involvement, and (iii) disseminated/generalized IM with visceral disease. (lu2023prenatalgeneticdiagnosis pages 1-2, mashiah2014infantilemyofibromatosisa pages 2-4)

1.2 Key identifiers and nomenclature

1.3 Synonyms / related terms used in practice

Commonly used related terms in the retrieved literature include: - “Myofibromatosis” for multicentric disease, and “myofibroma” for solitary lesions/tumors. (dachy2019associationofpdgfrb pages 1-2, koo2020adistinctivegenomic pages 1-2) - “Generalized/disseminated infantile myofibromatosis” for visceral disease. (mudry2017casereportrapid pages 1-2, lu2023prenatalgeneticdiagnosis pages 1-2)

1.4 Evidence sources

The knowledge base content below is derived primarily from aggregated disease-level resources in peer-reviewed cohort studies/consensus recommendations plus case reports/series (including prenatal and targeted-therapy reports). (hettmer2021genetictestingand pages 1-3, dachy2019associationofpdgfrb pages 1-2, mashiah2014infantilemyofibromatosisa pages 2-4, lu2023prenatalgeneticdiagnosis pages 1-2)

2. Etiology

2.1 Disease causal factors

Genetic etiology is central. Two genes have the strongest evidence in human familial disease: - PDGFRB (platelet-derived growth factor receptor beta): germline (autosomal dominant) and somatic/mosaic gain-of-function variants; constitutes the dominant known genetic driver. (martignetti2013mutationsinpdgfrb pages 1-3, hettmer2021genetictestingand pages 1-3, dachy2019associationofpdgfrb pages 1-2) - NOTCH3: a rare familial cause (e.g., NOTCH3 p.Leu1519Pro) and mechanistic link to PDGFRB upregulation. (martignetti2013mutationsinpdgfrb pages 1-3, wu2021theinfantilemyofibromatosis pages 1-1)

2.2 Risk factors

No specific environmental or lifestyle risk factors were identified in the retrieved evidence.

2.3 Protective factors / gene–environment interactions

No protective genetic variants or gene–environment interaction evidence was identified in the retrieved sources.

3. Phenotypes

3.1 Core phenotype spectrum (with onset, course, frequencies)

Typical onset: most commonly at birth or before age 2 years. (murray2017thespectrumof pages 1-7, hettmer2021genetictestingand pages 1-3)

Clinical forms and frequencies (single-center series): In a 28-case series, clinical spectrum included solitary (~50%), multicentric (~39%), and generalized forms. (mashiah2014infantilemyofibromatosisa pages 1-2)

Lesion characteristics: firm, painless cutaneous/subcutaneous nodules; may appear flesh-colored/purple or ulcerated/angiomatous. (mashiah2014infantilemyofibromatosisa pages 4-6, mashiah2014infantilemyofibromatosisa pages 1-2)

Spontaneous regression: Common in multicentric disease: in the 28-case series, “The nodules regressed spontaneously … in 7 of 11 patients during the first 2 years of life.” (mashiah2014infantilemyofibromatosisa pages 2-4)

Recurrence: Although regression is common, late recurrence/relapse can occur and long-term follow-up may be needed. (mashiah2014infantilemyofibromatosisa pages 4-6, murray2017thespectrumof pages 1-7)

Visceral involvement: Visceral lesions may involve lung, liver, heart, spleen, intestine/bowel, kidney, and other organs. (lu2023prenatalgeneticdiagnosis pages 3-5, mashiah2014infantilemyofibromatosisa pages 2-4)

3.2 Prenatal phenotype

Prenatal presentation is rare but increasingly recognized. - In a literature review of prenatally detected cases, detection was typically in the third trimester: 15/17, mean 32 weeks. (lu2023prenatalgeneticdiagnosis pages 3-5) - Visceral involvement was common in this prenatal series (>50%, 9/17), affecting organs including lung, liver, heart, spleen, intestine, and kidney. (lu2023prenatalgeneticdiagnosis pages 3-5)

3.3 Phenotype → suggested HPO terms (examples)

(ontology suggestions; not claims of completeness) - Cutaneous/subcutaneous nodules/tumors: HP:0008069 (Subcutaneous nodule), HP:0008064 (Skin nodule) - Soft-tissue tumor / fibrous tumor: HP:0002664 (Soft tissue mass) - Bone involvement (lytic lesions/erosion): HP:0002658 (Skeletal abnormalities), HP:0002650 (Skeletal lytic lesions) - Visceral involvement (examples): HP:0001627 (Abnormality of the cardiovascular system), HP:0001740 (Abnormality of the gastrointestinal system), HP:0001507 (Failure to thrive) (for severe systemic disease) - Prenatal ultrasound-detected masses: HP:0000918 (Abnormal prenatal ultrasound)

3.4 Quality-of-life impact

QoL impact is driven by number/location of lesions and organ compromise. A targeted-therapy case report emphasizes that sunitinib-based therapy produced response “without toxicities or limitations to daily life activities” in a refractory case. (mudry2017casereportrapid pages 1-2)

4. Genetic / Molecular Information

4.1 Causal genes

4.2 Pathogenic variant classes and examples

PDGFRB gain-of-function variants cluster in key regulatory regions: - Juxtamembrane domain hotspot: p.Arg561Cys (R561C) and nearby residues. (hettmer2021genetictestingand pages 1-3, lee2013mutationsinpdgfrb pages 1-3) - Kinase domain hotspot: p.Asn666Lys (N666K); also p.Pro660Thr (P660T). (lee2013mutationsinpdgfrb pages 1-3, koo2020adistinctivegenomic pages 1-2) - Prenatal DFIM example: PDGFRB c.1681C>T (p.R561C) inherited from an asymptomatic father; authors highlight incomplete penetrance/variable expressivity and severe visceral disease leading to fetal demise in their case. (lu2023prenatalgeneticdiagnosis pages 1-2, lu2023prenatalgeneticdiagnosis pages 5-6)

NOTCH3: - Familial NOTCH3 c.4556T>C (p.Leu1519Pro; L1519P) was identified in a PDGFRB-negative family. (lee2013mutationsinpdgfrb pages 1-3, martignetti2013mutationsinpdgfrb pages 1-3)

Recent 2024 expansion of PDGFRB genotype/phenotype: Corneal infantile myofibromatosis was associated with novel activating PDGFRB variants including c.1766A>G (p.Tyr589Cys) and c.1949C>G (p.Ser650Trp / S650W). (howaldt2024cornealinfantilemyofibromatosis pages 4-6, howaldt2024cornealinfantilemyofibromatosis pages 8-9)

4.3 Somatic vs germline architecture

4.4 Molecular mechanisms (pathophysiology)

PDGFRB activation as upstream driver: PDGFRB gain-of-function variants produce ligand-independent receptor activation and downstream growth signaling; in a 69-patient pediatric-focused cohort, functional characterization supported constitutive activation across identified variants. (dachy2019associationofpdgfrb pages 1-2, dachy2019associationofpdgfrb pages 3-4)

NOTCH3–PDGFRB axis: Wu et al. functionally showed NOTCH3L1519P is ligand-independent gain-of-function and “upregulates PDGFRB expression in fibroblasts,” concluding they “define a NOTCH3–PDGFRB axis in IMF.” (wu2021theinfantilemyofibromatosis pages 1-1)

4.5 Suggested GO (biological process) and CL (cell type) terms

(ontology suggestions) - GO processes: GO:0007173 (epidermal growth factor receptor signaling pathway) (as an RTK analog), GO:0007169 (transmembrane receptor protein tyrosine kinase signaling pathway), GO:0008283 (cell population proliferation), GO:0001525 (angiogenesis) - CL (cell types): CL:0000186 (myofibroblast); pericytic lineage supported by genomic/IHC profiling. (koo2020adistinctivegenomic pages 1-2)

5. Environmental Information

No validated environmental, lifestyle, or infectious triggers were identified in the retrieved evidence base.

6. Mechanism / Pathophysiology (causal chains)

6.1 PDGFRB-driven disease

Causal chain (simplified): 1) Activating PDGFRB variant (germline, somatic, or mosaic) → 2) Constitutive PDGFRB kinase signaling → 3) Increased proliferation/survival of perivascular/myofibroblastic progenitors → 4) Myofibromas in skin/soft tissue/bone ± viscera → 5) Mass effect/organ dysfunction in severe disseminated disease. (dachy2019associationofpdgfrb pages 1-2, mashiah2014infantilemyofibromatosisa pages 2-4)

Downstream pathways referenced in the clinical genetics literature include RAS/RAF/ERK and PI3K/AKT/mTOR signaling. (pudig2025infantilemyofibromatosisand pages 1-2)

6.2 NOTCH3-driven disease (rare)

Causal chain (simplified): 1) NOTCH3 L1519P → 2) ligand-independent NOTCH activation with altered trafficking/processing → 3) PDGFRB upregulation (epistatic axis) → 4) enhanced PDGF responsiveness and proliferation signatures → 5) IM lesions. (wu2021theinfantilemyofibromatosis pages 7-8, wu2021theinfantilemyofibromatosis pages 8-9)

7. Anatomical Structures Affected

7.1 Organ/system involvement

7.2 Suggested UBERON terms (examples)

8. Temporal Development

8.1 Onset and course

8.2 Remission patterns

Spontaneous regression is characteristic, especially in multicentric non-visceral disease. (mashiah2014infantilemyofibromatosisa pages 2-4, murray2017thespectrumof pages 1-7)

9. Inheritance and Population

9.1 Epidemiology

9.2 Inheritance

10. Diagnostics

10.1 Clinical evaluation and imaging

10.2 Pathology and immunohistochemistry

Characteristic histology includes a biphasic lesion with peripheral spindle-cell myofibroblastic proliferation and central hemangiopericytoma-like vascular areas (“staghorn” vessels). (mashiah2014infantilemyofibromatosisa pages 2-4)

Immunophenotype in series/case contexts: - Strong smooth muscle actin (SMA) positivity is commonly reported. (mashiah2014infantilemyofibromatosisa pages 2-4, lu2023prenatalgeneticdiagnosis pages 2-3) - In one familial-spectrum report, tumors were actin-positive and desmin-negative. (murray2017thespectrumof pages 1-7) - In corneal PDGFRB-variant lesions: SMA-positive, low Ki-67 (<5%), variable/marginal desmin; negative caldesmon and CD34 in described cases. (howaldt2024cornealinfantilemyofibromatosis pages 1-2, howaldt2024cornealinfantilemyofibromatosis pages 3-4)

10.3 Genetic testing (real-world implementation)

Tumor-first deep sequencing is increasingly used, given high prevalence of PDGFRB gain-of-function variants in pediatric disease and mosaicism/second-hit architectures. - In a 69-patient cohort, deep targeted sequencing identified PDGFRB gain-of-function variants in pediatric cases and supported their diagnostic/prognostic/therapeutic utility. (dachy2019associationofpdgfrb pages 1-2) - SIOPE recommendations emphasize NGS with sufficient depth; most pathogenic PDGFRB variants cluster in exons 12 and 14, but up to one-third occur elsewhere; for suspected mosaicism, testing multiple lesions is recommended. (hettmer2021genetictestingand pages 6-7)

10.4 Differential diagnosis (high level)

The main diagnostic challenge is morphologic overlap with other pericytic/myofibroblastic lesions (e.g., myopericytoma spectrum). Genomic + NOTCH3 IHC patterns can help in difficult cases. (koo2020adistinctivegenomic pages 1-2, dachy2019associationofpdgfrb pages 4-5)

11. Outcome / Prognosis

11.1 Prognosis by subtype

11.2 Prognostic factors (supported)

12. Treatment

12.1 Standard management in current practice

12.2 Targeted therapy (major recent development)

PDGFRB as an actionable target: - Large cohort functional testing supports broad PDGFRB mutant sensitivity: “all but one” PDGFRB mutant were imatinib-sensitive at clinically relevant concentrations in vitro, with a resistant activation-loop allele noted in that cohort. (dachy2019associationofpdgfrb pages 1-2, dachy2019associationofpdgfrb pages 4-5)

Clinical targeted-therapy implementation (case evidence): - A refractory generalized IM case with germline PDGFRB mutation had “unexpected and durable response” to sunitinib plus low-dose vinblastine after chemotherapy toxicity/limited response. (mudry2017casereportrapid pages 1-2)

2024 ocular/corneal targeted-therapy concept: - Novel activating PDGFRB variants causing corneal IM were blocked by imatinib (1 μM) in vitro, motivating targeted therapy concepts including topical imatinib (investigational). (howaldt2024cornealinfantilemyofibromatosis pages 6-8, howaldt2024cornealinfantilemyofibromatosis pages 8-9)

12.3 MAXO term suggestions

  • Observation/active surveillance: MAXO:0000127 (clinical monitoring)
  • Surgical excision: MAXO:0000467 (surgical excision)
  • Chemotherapy: MAXO:0000647 (chemotherapy)
  • Tyrosine kinase inhibitor therapy (imatinib/sunitinib): MAXO:0000747 (protein kinase inhibitor therapy)
  • Prenatal diagnosis/genetic testing: MAXO:0000741 (genetic testing)

12.4 Clinical trials

A clinicaltrials.gov search during this run did not retrieve an IM-specific interventional trial; retrieved trials were broader pediatric solid tumor studies (e.g., selpercatinib trial NCT03899792) and are not disease-targeted for IM. (tool output not cited; no IM-specific NCT evidence in retrieved text set)

13. Prevention

No primary prevention exists for a genetic tumor predisposition of this type. Secondary/tertiary prevention is primarily genetic counseling + early surveillance in at-risk infants. - Genetic counseling and prenatal approaches: authors recommend genetic counseling and consideration of prenatal or preimplantation genetic diagnosis in families with pathogenic PDGFRB variants. (lu2023prenatalgeneticdiagnosis pages 2-3)

14. Other Species / Natural Disease

No veterinary or cross-species natural disease evidence was identified in the retrieved sources.

15. Model Organisms / Model Systems

While whole-animal models were not identified in the retrieved evidence, mechanistic and functional work uses cell-based systems: - NOTCH3 L1519P functional characterization in fibroblasts and signaling assays defining NOTCH3→PDGFRB axis. (wu2021theinfantilemyofibromatosis pages 1-1, wu2021theinfantilemyofibromatosis pages 7-8) - PDGFRB variant functional assays in transfected cells, including imatinib inhibition experiments for corneal IM variants. (howaldt2024cornealinfantilemyofibromatosis pages 2-3, howaldt2024cornealinfantilemyofibromatosis pages 6-8)

Recent developments & “expert opinions” (authoritative analyses)

2023–2024 highlights (prioritized)

1) Prenatal genetic diagnosis and outcome quantification (2023): Lü et al. emphasize that “Prenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality” and report a severe fetal case with PDGFRB p.R561C. (lu2023prenatalgeneticdiagnosis pages 1-2) 2) Novel PDGFRB variants expanding the phenotype to corneal disease (2024): Howaldt et al. identify novel activating PDGFRB variants in corneal IM and show imatinib blockade in vitro, proposing targeted therapeutic avenues to prevent recurrences. (howaldt2024cornealinfantilemyofibromatosis pages 6-8, howaldt2024cornealinfantilemyofibromatosis pages 1-2)

Consensus/working-group recommendations

The SIOPE Host Genome Working Group report frames PDGFRB testing and surveillance as an emerging standard because mutant receptors are typically imatinib-sensitive and because early-life visceral disease can be life-threatening. (hettmer2021genetictestingand pages 1-3, hettmer2021genetictestingand pages 6-7)

Visual evidence (prenatal cases)

Table 1 from Lü et al. (2023) summarizes prenatally detected IM cases, including gestational age at detection, clinical subtype, outcomes, and treatments (including chemotherapy and imatinib in specific cases). (lu2023prenatalgeneticdiagnosis media ef3ffef0)

Genetics and therapy summary table

Table (click to expand)
Gene Variant examples / hotspots Inheritance / origin Mechanistic implication Therapeutic implication / evidence Key quantitative findings Key studies
PDGFRB R561C (juxtamembrane hotspot, exon 12) Germline autosomal dominant familial IM; can require second cis-acting hit; also reported as likely germline/de novo in sporadic pediatric disease Disrupts juxtamembrane autoinhibition, causing ligand-independent kinase activation; weaker germline activation may need second hit for full activation Mutant receptors are typically imatinib-sensitive; PDGFR inhibitors also include sunitinib; targeted therapy supported by clinical case responses and in vitro sensitivity (lee2013mutationsinpdgfrb pages 1-3, hettmer2021genetictestingand pages 1-3, mudry2017casereportrapid pages 1-2, dachy2019associationofpdgfrb pages 1-2) In pediatric series, PDGFRB GOF mutations in 13/19 myofibromatosis cases (68%); 3/25 (12%) PDGFRB-mutant pediatric cases were likely germline, all involving R561 (dachy2019associationofpdgfrb pages 1-2, dachy2019associationofpdgfrb pages 3-4) Martignetti 2013 Am J Hum Genet; Dachy 2019 JAMA Dermatol; Hettmer 2021 Familial Cancer
PDGFRB N666K (kinase domain hotspot) Often somatic second hit; also reported in sporadic lesions/mosaic contexts Kinase-domain activating mutation favoring active receptor conformation; can cooperate with R561C in a second-hit model Generally imatinib-sensitive in functional studies; PDGFRB-mutant lesions may respond to TKIs, though resistance depends on allele Seen among recurrent hotspots in IM/myofibroma; second-hit combinations support multicentric disease biology (lee2013mutationsinpdgfrb pages 1-3, lepelletier2017heterozygouspdgfrbmutation pages 1-2, dachy2019associationofpdgfrb pages 3-4) Lee 2013 Clinical Genetics; Lepelletier 2017 Acta Derm Venereol; Dachy 2019 JAMA Dermatol
PDGFRB P560L (exon 12) Germline autosomal dominant familial IM Juxtamembrane-domain activation analogous to other exon 12 PDGFRB variants Likely TKI-sensitive by class effect; cited among actionable PDGFRB familial variants Novel segregating variant in a 3-generation AD IM family (lepelletier2017heterozygouspdgfrbmutation pages 1-2, hettmer2021genetictestingand pages 1-3) Lepelletier 2017 Acta Derm Venereol; Hettmer 2021 Familial Cancer
PDGFRB P660T (exon 14) Germline AD in single reported family Kinase-domain mutation predicted to stabilize active conformation / constitutive signaling Supports genotype-guided TKI consideration; included among IM-causing activating alleles Rare compared with exon 12 hotspots (lee2013mutationsinpdgfrb pages 1-3, hettmer2021genetictestingand pages 1-3) Lee 2013 Clinical Genetics; Hettmer 2021 Familial Cancer
PDGFRB Y589C and S650W (novel corneal IM variants) Familial autosomal dominant transmission in two unrelated families Constitutive ligand-independent activation in vitro; corneal myofibromatosis / pterygium-like phenotype Imatinib at 1 μM completely blocked mutant activation in vitro; authors propose topical/systemic imatinib as targeted strategy for recurrent corneal disease (howaldt2024cornealinfantilemyofibromatosis pages 1-2, howaldt2024cornealinfantilemyofibromatosis pages 8-9, howaldt2024cornealinfantilemyofibromatosis pages 4-6, howaldt2024cornealinfantilemyofibromatosis pages 6-8) 4 affected individuals from 2 families; all had recurrence after corneal surgery (howaldt2024cornealinfantilemyofibromatosis pages 1-2, howaldt2024cornealinfantilemyofibromatosis pages 3-4) Howaldt 2024 Ophthalmology Science
PDGFRB Broad pediatric mutation spectrum (including juxtamembrane duplication and multiple activating alleles) Somatic, germline/de novo, and mosaic forms all reported All identified pediatric PDGFRB variants in cohort caused ligand-independent receptor activation All but one tested mutants were imatinib-sensitive at clinically relevant concentrations; one activation-loop allele (D850V) was resistant (dachy2019associationofpdgfrb pages 1-2, dachy2019associationofpdgfrb pages 4-5, hettmer2021genetictestingand pages 3-5) 25 PDGFRB-mutant children among 69 patients; 0 adults had PDGFRB mutations in that series (dachy2019associationofpdgfrb pages 1-2) Dachy 2019 JAMA Dermatol; Hettmer 2021 Familial Cancer
PDGFRB c.1681C>A germline variant in refractory generalized IM Germline familial case; sister shared genotype/histology Elevated intratumoral PDGFRβ phosphokinase activity Sunitinib + low-dose vinblastine produced rapid, durable responses after chemotherapy failure/toxicity (mudry2017casereportrapid pages 1-2) Real-world response in 2 siblings with severe disease; quality-of-life preserved during targeted therapy (mudry2017casereportrapid pages 1-2) Mudry 2017 BMC Cancer
NOTCH3 L1519P Germline autosomal dominant in one familial kindred lacking PDGFRB mutation Hyperactivated ligand-independent Notch signaling; mutant receptor mislocalized to ER/lysosomal pathway; upregulates PDGFRB, defining a NOTCH3→PDGFRB axis (wu2021theinfantilemyofibromatosis pages 7-8, wu2021theinfantilemyofibromatosis pages 1-1, wu2021theinfantilemyofibromatosis pages 1-3, wu2021theinfantilemyofibromatosis pages 8-9) Suggests potential benefit from targeting downstream PDGFRB and/or Notch processing/signaling; ligand-blocking strategies may be less effective because activation is ligand-independent Rare compared with PDGFRB-driven IM; found in 1/10 sequenced myofibroma cases in one genomic/IHC series (koo2020adistinctivegenomic pages 1-2) Wu 2021 Dis Model Mech; Koo 2020 Int J Surg Pathol
PDGFRB / NOTCH3 pathway PDGFRB hotspots plus NOTCH3 L1519P Familial AD, somatic, and mosaic architectures all contribute to disease heterogeneity Convergent activation of pericytic / myofibroblastic growth signaling; NOTCH3 activation can increase PDGFRB expression, while PDGFRB GOF directly activates downstream signaling Supports molecular testing-first management: deep NGS of tumor and blood, hotspot focus on exons 12 and 14, and genotype-guided TKI consideration; multiple lesions may need testing when mosaicism is suspected (hettmer2021genetictestingand pages 6-7, hettmer2021genetictestingand pages 1-3) SIOPE report notes most variants cluster in exons 12 and 14, but up to one-third occur elsewhere; testing of multiple lesions recommended if blood is negative and mosaicism suspected (hettmer2021genetictestingand pages 6-7) Hettmer 2021 Familial Cancer; Koo 2020 Int J Surg Pathol; Wu 2021 Dis Model Mech

Table: This table summarizes the main disease genes, recurrent variants, inheritance patterns, pathogenic mechanisms, and therapeutic implications in infantile myofibromatosis. It highlights the predominance of PDGFRB-driven disease, the rarer NOTCH3-driven subtype, and the evidence supporting genotype-guided use of tyrosine kinase inhibitors such as imatinib and sunitinib.

Key statistics (quick reference)

Primary literature used (URLs and publication dates)

References

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  2. (martignetti2013mutationsinpdgfrb pages 1-3): John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J. Zand, Audrey M. Bernstein, Sandra K. Masur, Cecilia E. Kim, Frederick G. Otieno, Cuiping Hou, Nada Abdel-Magid, Ben Tweddale, Denise Metry, Jean-Christophe Fournet, Eniko Papp, Elizabeth W. McPherson, Carrie Zabel, Guy Vaksmann, Cyril Morisot, Brendan Keating, Patrick M. Sleiman, Jeffrey A. Cleveland, David B. Everman, Elaine Zackai, and Hakon Hakonarson. Mutations in pdgfrb cause autosomal-dominant infantile myofibromatosis. American journal of human genetics, 92 6:1001-7, Jun 2013. URL: https://doi.org/10.1016/j.ajhg.2013.04.024, doi:10.1016/j.ajhg.2013.04.024. This article has 222 citations and is from a highest quality peer-reviewed journal.

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  4. (lee2013mutationsinpdgfrb pages 1-3): JW Lee. Mutations in pdgfrb and notch3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Clinical Genetics, 84:340-341, Oct 2013. URL: https://doi.org/10.1111/cge.12238, doi:10.1111/cge.12238. This article has 31 citations and is from a peer-reviewed journal.

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  6. (dachy2019associationofpdgfrb pages 1-2): Guillaume Dachy, Ronald R. de Krijger, Sylvie Fraitag, Ivan Théate, Bénédicte Brichard, Suma B. Hoffman, Louis Libbrecht, Florence A. Arts, Pascal Brouillard, Miikka Vikkula, Nisha Limaye, and Jean-Baptiste Demoulin. Association of pdgfrb mutations with pediatric myofibroma and myofibromatosis. JAMA dermatology, 155:946, Aug 2019. URL: https://doi.org/10.1001/jamadermatol.2019.0114, doi:10.1001/jamadermatol.2019.0114. This article has 70 citations and is from a domain leading peer-reviewed journal.

  7. (koo2020adistinctivegenomic pages 1-2): Selene C. Koo, Katherine A. Janeway, Marian H. Harris, Christy J. Fryer, Jon C. Aster, Alyaa Al-Ibraheemi, and Alanna J. Church. A distinctive genomic and immunohistochemical profile for notch3 and pdgfrb in myofibroma with diagnostic and therapeutic implications. International Journal of Surgical Pathology, 28:128-137, Apr 2020. URL: https://doi.org/10.1177/1066896919876703, doi:10.1177/1066896919876703. This article has 9 citations and is from a peer-reviewed journal.

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  9. (hettmer2021genetictestingand pages 1-3): Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, and Jean-Baptiste Demoulin. Genetic testing and surveillance in infantile myofibromatosis: a report from the siope host genome working group. Familial Cancer, 20:327-336, Sep 2021. URL: https://doi.org/10.1007/s10689-020-00204-2, doi:10.1007/s10689-020-00204-2. This article has 31 citations and is from a peer-reviewed journal.

  10. (wu2021theinfantilemyofibromatosis pages 1-1): Dan Wu, Sailan Wang, Daniel V. Oliveira, Francesca Del Gaudio, Michael Vanlandewijck, Thibaud Lebouvier, Christer Betsholtz, Jian Zhao, ShaoBo Jin, Urban Lendahl, and Helena Karlström. The infantile myofibromatosis notch3 l1519p mutation leads to hyperactivated ligand-independent notch signaling and increased pdgfrb expression. Disease Models & Mechanisms, Feb 2021. URL: https://doi.org/10.1242/dmm.046300, doi:10.1242/dmm.046300. This article has 20 citations and is from a domain leading peer-reviewed journal.

  11. (lu2023prenatalgeneticdiagnosis pages 3-5): Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu, and Hua Meng. Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review. BMC Medical Genomics, Aug 2023. URL: https://doi.org/10.1186/s12920-023-01612-w, doi:10.1186/s12920-023-01612-w. This article has 1 citations and is from a peer-reviewed journal.

  12. (dachy2019associationofpdgfrb pages 3-4): Guillaume Dachy, Ronald R. de Krijger, Sylvie Fraitag, Ivan Théate, Bénédicte Brichard, Suma B. Hoffman, Louis Libbrecht, Florence A. Arts, Pascal Brouillard, Miikka Vikkula, Nisha Limaye, and Jean-Baptiste Demoulin. Association of pdgfrb mutations with pediatric myofibroma and myofibromatosis. JAMA dermatology, 155:946, Aug 2019. URL: https://doi.org/10.1001/jamadermatol.2019.0114, doi:10.1001/jamadermatol.2019.0114. This article has 70 citations and is from a domain leading peer-reviewed journal.

  13. (pudig2025infantilemyofibromatosisand pages 1-2): Luise Pudig, Silke Lassmann, Sebastian Jacob, Marina Nastainczyk-Wulf, Anja Haak, Martin Werner, Friedrich G Kapp, and Simone Hettmer. Infantile myofibromatosis and capillary malformation of the skin due to pdgfrb mosaicism. Molecular and Cellular Pediatrics, Jul 2025. URL: https://doi.org/10.1186/s40348-025-00197-x, doi:10.1186/s40348-025-00197-x. This article has 0 citations.

  14. (murray2017thespectrumof pages 1-7): Natalia Murray, B. Hanna, N. Graf, H. Fu, Veronneau Mylène, Philippe M. Campeau, and A. Ronan. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. European journal of medical genetics, 60 7:353-358, Jul 2017. URL: https://doi.org/10.1016/j.ejmg.2017.02.005, doi:10.1016/j.ejmg.2017.02.005. This article has 35 citations and is from a peer-reviewed journal.

  15. (mashiah2014infantilemyofibromatosisa pages 1-2): Jacob Mashiah, Smail Hadj-Rabia, Anne Dompmartin, Annie Harroche, Etty Laloum-Grynberg, Michèle Wolter, Jean-Claude Amoric, Dominique Hamel-Teillac, Stéphane Guero, Sylvie Fraitag, and Christine Bodemer. Infantile myofibromatosis: a series of 28 cases. Journal of the American Academy of Dermatology, 71 2:264-70, Aug 2014. URL: https://doi.org/10.1016/j.jaad.2014.03.035, doi:10.1016/j.jaad.2014.03.035. This article has 123 citations and is from a domain leading peer-reviewed journal.

  16. (mashiah2014infantilemyofibromatosisa pages 4-6): Jacob Mashiah, Smail Hadj-Rabia, Anne Dompmartin, Annie Harroche, Etty Laloum-Grynberg, Michèle Wolter, Jean-Claude Amoric, Dominique Hamel-Teillac, Stéphane Guero, Sylvie Fraitag, and Christine Bodemer. Infantile myofibromatosis: a series of 28 cases. Journal of the American Academy of Dermatology, 71 2:264-70, Aug 2014. URL: https://doi.org/10.1016/j.jaad.2014.03.035, doi:10.1016/j.jaad.2014.03.035. This article has 123 citations and is from a domain leading peer-reviewed journal.

  17. (lu2023prenatalgeneticdiagnosis pages 5-6): Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu, and Hua Meng. Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review. BMC Medical Genomics, Aug 2023. URL: https://doi.org/10.1186/s12920-023-01612-w, doi:10.1186/s12920-023-01612-w. This article has 1 citations and is from a peer-reviewed journal.

  18. (howaldt2024cornealinfantilemyofibromatosis pages 4-6): Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer, Jean-Baptiste Demoulin, and Claus Cursiefen. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in pdgfrb. Ophthalmology Science, 4:100444, May 2024. URL: https://doi.org/10.1016/j.xops.2023.100444, doi:10.1016/j.xops.2023.100444. This article has 4 citations.

  19. (howaldt2024cornealinfantilemyofibromatosis pages 8-9): Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer, Jean-Baptiste Demoulin, and Claus Cursiefen. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in pdgfrb. Ophthalmology Science, 4:100444, May 2024. URL: https://doi.org/10.1016/j.xops.2023.100444, doi:10.1016/j.xops.2023.100444. This article has 4 citations.

  20. (hettmer2021genetictestingand pages 6-7): Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, and Jean-Baptiste Demoulin. Genetic testing and surveillance in infantile myofibromatosis: a report from the siope host genome working group. Familial Cancer, 20:327-336, Sep 2021. URL: https://doi.org/10.1007/s10689-020-00204-2, doi:10.1007/s10689-020-00204-2. This article has 31 citations and is from a peer-reviewed journal.

  21. (wu2021theinfantilemyofibromatosis pages 7-8): Dan Wu, Sailan Wang, Daniel V. Oliveira, Francesca Del Gaudio, Michael Vanlandewijck, Thibaud Lebouvier, Christer Betsholtz, Jian Zhao, ShaoBo Jin, Urban Lendahl, and Helena Karlström. The infantile myofibromatosis notch3 l1519p mutation leads to hyperactivated ligand-independent notch signaling and increased pdgfrb expression. Disease Models & Mechanisms, Feb 2021. URL: https://doi.org/10.1242/dmm.046300, doi:10.1242/dmm.046300. This article has 20 citations and is from a domain leading peer-reviewed journal.

  22. (wu2021theinfantilemyofibromatosis pages 8-9): Dan Wu, Sailan Wang, Daniel V. Oliveira, Francesca Del Gaudio, Michael Vanlandewijck, Thibaud Lebouvier, Christer Betsholtz, Jian Zhao, ShaoBo Jin, Urban Lendahl, and Helena Karlström. The infantile myofibromatosis notch3 l1519p mutation leads to hyperactivated ligand-independent notch signaling and increased pdgfrb expression. Disease Models & Mechanisms, Feb 2021. URL: https://doi.org/10.1242/dmm.046300, doi:10.1242/dmm.046300. This article has 20 citations and is from a domain leading peer-reviewed journal.

  23. (howaldt2024cornealinfantilemyofibromatosis pages 3-4): Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer, Jean-Baptiste Demoulin, and Claus Cursiefen. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in pdgfrb. Ophthalmology Science, 4:100444, May 2024. URL: https://doi.org/10.1016/j.xops.2023.100444, doi:10.1016/j.xops.2023.100444. This article has 4 citations.

  24. (howaldt2024cornealinfantilemyofibromatosis pages 6-8): Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer, Jean-Baptiste Demoulin, and Claus Cursiefen. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in pdgfrb. Ophthalmology Science, 4:100444, May 2024. URL: https://doi.org/10.1016/j.xops.2023.100444, doi:10.1016/j.xops.2023.100444. This article has 4 citations.

  25. (lu2023prenatalgeneticdiagnosis pages 2-3): Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu, and Hua Meng. Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review. BMC Medical Genomics, Aug 2023. URL: https://doi.org/10.1186/s12920-023-01612-w, doi:10.1186/s12920-023-01612-w. This article has 1 citations and is from a peer-reviewed journal.

  26. (mashiah2014infantilemyofibromatosisa pages 6-7): Jacob Mashiah, Smail Hadj-Rabia, Anne Dompmartin, Annie Harroche, Etty Laloum-Grynberg, Michèle Wolter, Jean-Claude Amoric, Dominique Hamel-Teillac, Stéphane Guero, Sylvie Fraitag, and Christine Bodemer. Infantile myofibromatosis: a series of 28 cases. Journal of the American Academy of Dermatology, 71 2:264-70, Aug 2014. URL: https://doi.org/10.1016/j.jaad.2014.03.035, doi:10.1016/j.jaad.2014.03.035. This article has 123 citations and is from a domain leading peer-reviewed journal.

  27. (hettmer2021genetictestingand pages 5-6): Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, and Jean-Baptiste Demoulin. Genetic testing and surveillance in infantile myofibromatosis: a report from the siope host genome working group. Familial Cancer, 20:327-336, Sep 2021. URL: https://doi.org/10.1007/s10689-020-00204-2, doi:10.1007/s10689-020-00204-2. This article has 31 citations and is from a peer-reviewed journal.

  28. (howaldt2024cornealinfantilemyofibromatosis pages 1-2): Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer, Jean-Baptiste Demoulin, and Claus Cursiefen. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in pdgfrb. Ophthalmology Science, 4:100444, May 2024. URL: https://doi.org/10.1016/j.xops.2023.100444, doi:10.1016/j.xops.2023.100444. This article has 4 citations.

  29. (dachy2019associationofpdgfrb pages 4-5): Guillaume Dachy, Ronald R. de Krijger, Sylvie Fraitag, Ivan Théate, Bénédicte Brichard, Suma B. Hoffman, Louis Libbrecht, Florence A. Arts, Pascal Brouillard, Miikka Vikkula, Nisha Limaye, and Jean-Baptiste Demoulin. Association of pdgfrb mutations with pediatric myofibroma and myofibromatosis. JAMA dermatology, 155:946, Aug 2019. URL: https://doi.org/10.1001/jamadermatol.2019.0114, doi:10.1001/jamadermatol.2019.0114. This article has 70 citations and is from a domain leading peer-reviewed journal.

  30. (hettmer2021genetictestingand pages 3-5): Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, and Jean-Baptiste Demoulin. Genetic testing and surveillance in infantile myofibromatosis: a report from the siope host genome working group. Familial Cancer, 20:327-336, Sep 2021. URL: https://doi.org/10.1007/s10689-020-00204-2, doi:10.1007/s10689-020-00204-2. This article has 31 citations and is from a peer-reviewed journal.

  31. (howaldt2024cornealinfantilemyofibromatosis pages 2-3): Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Mario Matthaei, Jürgen Kohlhase, Christian Vokuhl, Reinhard Büttner, Christian Netzer, Jean-Baptiste Demoulin, and Claus Cursiefen. Corneal infantile myofibromatosis caused by novel activating imatinib-responsive variants in pdgfrb. Ophthalmology Science, 4:100444, May 2024. URL: https://doi.org/10.1016/j.xops.2023.100444, doi:10.1016/j.xops.2023.100444. This article has 4 citations.

  32. (lu2023prenatalgeneticdiagnosis media ef3ffef0): Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu, and Hua Meng. Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review. BMC Medical Genomics, Aug 2023. URL: https://doi.org/10.1186/s12920-023-01612-w, doi:10.1186/s12920-023-01612-w. This article has 1 citations and is from a peer-reviewed journal.

  33. (wu2021theinfantilemyofibromatosis pages 1-3): Dan Wu, Sailan Wang, Daniel V. Oliveira, Francesca Del Gaudio, Michael Vanlandewijck, Thibaud Lebouvier, Christer Betsholtz, Jian Zhao, ShaoBo Jin, Urban Lendahl, and Helena Karlström. The infantile myofibromatosis notch3 l1519p mutation leads to hyperactivated ligand-independent notch signaling and increased pdgfrb expression. Disease Models & Mechanisms, Feb 2021. URL: https://doi.org/10.1242/dmm.046300, doi:10.1242/dmm.046300. This article has 20 citations and is from a domain leading peer-reviewed journal.