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Infantile myofibromatosis(IMF)

MedGen UID:
140933
Concept ID:
C0432284
Disease or Syndrome
Synonyms: FIBROMATOSIS, CONGENITAL GENERALIZED; IMF
SNOMED CT: Congenital generalized fibromatosis (73767002); Infantile myofibromatosis (73767002); Infantile myofibromatosis (254146000); Congenital generalized fibromatosis (254146000)
 
Related genes: PDGFRB, NOTCH3
 
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.

Recent clinical studies

Etiology

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
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
Naffaa L, Khalifeh I, Salman R, Itani M, Saab R, Al-Kutoubi A
Clin Imaging 2019 Mar - Apr;54:40-47. Epub 2018 Nov 8 doi: 10.1016/j.clinimag.2018.11.003. PMID: 30529421
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
Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C
J Am Acad Dermatol 2014 Aug;71(2):264-70. Epub 2014 Jun 2 doi: 10.1016/j.jaad.2014.03.035. PMID: 24894456

Diagnosis

Saikaly SK, Schoch JJ, Motaparthi K, Shenoy A, Knapik JA, Bender NR
Pediatr Dermatol 2021 Jan;38(1):249-252. Epub 2020 Nov 21 doi: 10.1111/pde.14456. PMID: 33222239
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
Wang KL, Suchomski SJ, Goldstein JD, Andreoli SM
Auris Nasus Larynx 2020 Dec;47(6):1049-1053. Epub 2019 Oct 31 doi: 10.1016/j.anl.2019.10.005. PMID: 31677854
Rekawek P, Coleman BG, Kamath A, Stone JL
J Clin Ultrasound 2019 Oct;47(8):490-493. Epub 2019 May 9 doi: 10.1002/jcu.22731. PMID: 31070795
Inoue M, Tanaka S, Nakatomi H, Takayanagi S, Takahashi M, Tanaka M, Momose T, Mukasa A, Saito N
World Neurosurg 2016 Sep;93:487.e15-20. Epub 2016 Jun 30 doi: 10.1016/j.wneu.2016.06.105. PMID: 27373934

Therapy

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
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
Hassan M, Butler E, Wilson R, Roy A, Zheng Y, Liem P, Rakheja D, Pavlick D, Young LL, Rosenzweig M, Erlich R, Ali SM, Leavey PJ, Parsons DW, Skapek SX, Laetsch TW
Cold Spring Harb Mol Case Stud 2019 Oct;5(5) Epub 2019 Oct 23 doi: 10.1101/mcs.a004440. PMID: 31645346Free PMC Article
Sramek M, Neradil J, Macigova P, Mudry P, Polaskova K, Slaby O, Noskova H, Sterba J, Veselska R
Int J Mol Sci 2018 Sep 1;19(9) doi: 10.3390/ijms19092599. PMID: 30200486Free PMC Article
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J
BMC Cancer 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. PMID: 28183292Free PMC Article

Prognosis

Saikaly SK, Schoch JJ, Motaparthi K, Shenoy A, Knapik JA, Bender NR
Pediatr Dermatol 2021 Jan;38(1):249-252. Epub 2020 Nov 21 doi: 10.1111/pde.14456. PMID: 33222239
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
Tang ER, Khalatbari H, Parisi MT
Clin Nucl Med 2019 Aug;44(8):676-679. doi: 10.1097/RLU.0000000000002627. PMID: 31274622
Arts FA, Sciot R, Brichard B, Renard M, de Rocca Serra A, Dachy G, Noël LA, Velghe AI, Galant C, Debiec-Rychter M, Van Damme A, Vikkula M, Helaers R, Limaye N, Poirel HA, Demoulin JB
Hum Mol Genet 2017 May 15;26(10):1801-1810. doi: 10.1093/hmg/ddx081. PMID: 28334876
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J
BMC Cancer 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. PMID: 28183292Free PMC Article

Clinical prediction guides

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
Guimier A, Gordon CT, Hully M, Blauwblomme T, Minard-Colin V, Bole-Feysot C, Nitschké P, Oufadem M, Boddaert N, Sarnacki S, Amiel J
Am J Med Genet A 2019 Jul;179(7):1304-1309. Epub 2019 Apr 19 doi: 10.1002/ajmg.a.61151. PMID: 31004414
Naffaa L, Khalifeh I, Salman R, Itani M, Saab R, Al-Kutoubi A
Clin Imaging 2019 Mar - Apr;54:40-47. Epub 2018 Nov 8 doi: 10.1016/j.clinimag.2018.11.003. PMID: 30529421
Sramek M, Neradil J, Macigova P, Mudry P, Polaskova K, Slaby O, Noskova H, Sterba J, Veselska R
Int J Mol Sci 2018 Sep 1;19(9) doi: 10.3390/ijms19092599. PMID: 30200486Free PMC Article
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J
BMC Cancer 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. PMID: 28183292Free PMC Article

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