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Infantile myofibromatosis(IMF)

MedGen UID:
140933
•Concept ID:
C0432284
•
Neoplastic Process
Synonyms: Congenital generalized fibromatosis; IMF
SNOMED CT: Infantile myofibromatosis (254146000); Congenital generalized fibromatosis (254146000); Infantile myofibromatosis (1285183007); Congenital generalized fibromatosis (1285183007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: PDGFRB, NOTCH3
 
Monarch Initiative: MONDO:0016824
OMIM®: 228550
OMIM® Phenotypic series: PS228550
Orphanet: ORPHA2591

Definition

Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). Genetic Heterogeneity of Infantile Myofibromatosis See also IMF2 (615293), caused by mutation in the NOTCH3 gene (600276). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Infantile myofibromatosis in Orphanet.

Professional guidelines

PubMed

Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Gynecology and Oncology Fetal Myofibromatosis: A Challenge for Prenatal Diagnosis Mini Review of the English Literature.
Pekar-Zlotin M, Levinsohn-Tavor O, Livneh A, Sher O, Melcer Y, Maymon R
Obstet Gynecol Surv 2019 Oct;74(10):607-610. doi: 10.1097/OGX.0000000000000717. PMID: 31670833
Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing.
Parham DM
F1000Res 2018;7 Epub 2018 Dec 20 doi: 10.12688/f1000research.16236.1. PMID: 30613391Free PMC Article

Recent clinical studies

Etiology

Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing.
Parham DM
F1000Res 2018;7 Epub 2018 Dec 20 doi: 10.12688/f1000research.16236.1. PMID: 30613391Free PMC Article
Pediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review.
Sargar KM, Sheybani EF, Shenoy A, Aranake-Chrisinger J, Khanna G
Radiographics 2016 Jul-Aug;36(4):1195-214. doi: 10.1148/rg.2016150191. PMID: 27399243
Imaging of musculoskeletal fibromatosis.
Robbin MR, Murphey MD, Temple HT, Kransdorf MJ, Choi JJ
Radiographics 2001 May-Jun;21(3):585-600. doi: 10.1148/radiographics.21.3.g01ma21585. PMID: 11353108
Infantile myofibromatosis.
Chung EB, Enzinger FM
Cancer 1981 Oct 15;48(8):1807-18. doi: 10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g. PMID: 7284977

Diagnosis

Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.
Lü Y, Jiang Y, Wu H, Qi Q, Zhou X, Guo Q, Hao N, Liu J, Meng H
BMC Med Genomics 2023 Aug 11;16(1):185. doi: 10.1186/s12920-023-01612-w. PMID: 37568122Free PMC Article
Infantile Myofibromatosis: 32 Patients and Review of Literature.
Zhao G, Zhu M, Qin C, Liu X, Zhao X
J Pediatr Hematol Oncol 2020 Nov;42(8):495-498. doi: 10.1097/MPH.0000000000001603. PMID: 31764512
Gynecology and Oncology Fetal Myofibromatosis: A Challenge for Prenatal Diagnosis Mini Review of the English Literature.
Pekar-Zlotin M, Levinsohn-Tavor O, Livneh A, Sher O, Melcer Y, Maymon R
Obstet Gynecol Surv 2019 Oct;74(10):607-610. doi: 10.1097/OGX.0000000000000717. PMID: 31670833
Infantile myofibromatosis.
Larralde M, Ferrari B, Martinez JP, Barbieri MAF, Méndez JH, Casas J
An Bras Dermatol 2017 Nov-Dec;92(6):854-857. doi: 10.1590/abd1806-4841.20175001. PMID: 29364448Free PMC Article
Infantile myofibromatosis.
Gopal M, Chahal G, Al-Rifai Z, Eradi B, Ninan G, Nour S
Pediatr Surg Int 2008 Mar;24(3):287-91. Epub 2007 Dec 12 doi: 10.1007/s00383-007-2091-7. PMID: 18074145

Therapy

Infantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy.
Gehle S, Quinsey C, McShane D, Thompson P, Quezada G
J Pediatr Hematol Oncol 2023 Oct 1;45(7):e921-e923. Epub 2023 Jul 13 doi: 10.1097/MPH.0000000000002717. PMID: 37526359
Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.
Manisterski M, Benish M, Levin D, Shiran SI, Sher O, Gortzak Y, Elhasid R
Pediatr Blood Cancer 2021 Feb;68(2):e28769. Epub 2020 Oct 16 doi: 10.1002/pbc.28769. PMID: 33063933
Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report.
Bidadi B, Watson A, Weigel B, Oliveira A, Kirkham J, Arndt C
Pediatr Blood Cancer 2020 Jun;67(6):e28288. Epub 2020 Apr 19 doi: 10.1002/pbc.28288. PMID: 32307894
Infantile myofibromatosis.
Larralde M, Ferrari B, Martinez JP, Barbieri MAF, Méndez JH, Casas J
An Bras Dermatol 2017 Nov-Dec;92(6):854-857. doi: 10.1590/abd1806-4841.20175001. PMID: 29364448Free PMC Article
Vincristine and Dactinomycin in Infantile Myofibromatosis With a Review of Treatment Options.
Weaver MS, Navid F, Huppmann A, Meany H, Angiolillo A
J Pediatr Hematol Oncol 2015 Apr;37(3):237-41. doi: 10.1097/MPH.0000000000000286. PMID: 25389917

Prognosis

Infantile Myofibromatosis: 32 Patients and Review of Literature.
Zhao G, Zhu M, Qin C, Liu X, Zhao X
J Pediatr Hematol Oncol 2020 Nov;42(8):495-498. doi: 10.1097/MPH.0000000000001603. PMID: 31764512
Infantile myofibromatosis.
Gopal M, Chahal G, Al-Rifai Z, Eradi B, Ninan G, Nour S
Pediatr Surg Int 2008 Mar;24(3):287-91. Epub 2007 Dec 12 doi: 10.1007/s00383-007-2091-7. PMID: 18074145
Autosomal dominant inheritance of infantile myofibromatosis.
Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH
Am J Med Genet A 2004 Apr 30;126A(3):261-6. doi: 10.1002/ajmg.a.20598. PMID: 15054839
Infantile myofibromatosis.
Kim KH, Park YN, Joo HJ, Lee KG, Park C, Kim DS
Yonsei Med J 1989 Dec;30(4):376-82. doi: 10.3349/ymj.1989.30.4.376. PMID: 2626841
Infantile myofibromatosis.
Chung EB, Enzinger FM
Cancer 1981 Oct 15;48(8):1807-18. doi: 10.1002/1097-0142(19811015)48:8<1807::aid-cncr2820480818>3.0.co;2-g. PMID: 7284977

Clinical prediction guides

Infantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy.
Gehle S, Quinsey C, McShane D, Thompson P, Quezada G
J Pediatr Hematol Oncol 2023 Oct 1;45(7):e921-e923. Epub 2023 Jul 13 doi: 10.1097/MPH.0000000000002717. PMID: 37526359
Novel COL4A1-VEGFD gene fusion in myofibroma.
Dachy G, Fraitag S, Boulouadnine B, Cordi S, Demoulin JB
J Cell Mol Med 2021 May;25(9):4387-4394. Epub 2021 Apr 8 doi: 10.1111/jcmm.16502. PMID: 33830670Free PMC Article
Infantile Myofibromatosis: 32 Patients and Review of Literature.
Zhao G, Zhu M, Qin C, Liu X, Zhao X
J Pediatr Hematol Oncol 2020 Nov;42(8):495-498. doi: 10.1097/MPH.0000000000001603. PMID: 31764512
Vincristine and Dactinomycin in Infantile Myofibromatosis With a Review of Treatment Options.
Weaver MS, Navid F, Huppmann A, Meany H, Angiolillo A
J Pediatr Hematol Oncol 2015 Apr;37(3):237-41. doi: 10.1097/MPH.0000000000000286. PMID: 25389917
Cutaneous myofibroma.
Smith KJ, Skelton HG, Barrett TL, Lupton GP, Graham JH
Mod Pathol 1989 Nov;2(6):603-9. PMID: 2587567

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