Devleta Hadzic, Amela Selimovic, Edin Husaric, Almira Cosickic, Evlijana Zulic



Introduction:Infantile fibromatosis (IF) is a rare benign mesenchymal tumor of early childhood, located solitarily or multicentrically in the skin, soft tissues, muscles, bones, or visceral organs. The cause is unknown, and some cases are linked to mutations in two different genes. Rapid growth is typical, and while there are reports of spontaneous regression, relapses have also been recorded. Treatment depends on the location of the lesions, with surgery being the main treatment option.

Case report: This paper presents an unusual emergency presentation of infantile fibromatosis in a 16-month-old girl, initially manifested as acute laryngitis. The rapid development of respiratory failure necessitated immediate life-saving treatment. Emergency diagnostics revealed a large mass deep within the neck structures, causing significant compression and endangering the airways. The child’s condition was critical, and the multidisciplinary team thoroughly discussed available treatment options. Eventually, after careful preparations, the tumormass was surgically removed on the sixth day. The postoperative course was challenging, but the outcome was positive. Pathohistological diagnosis confirmed infantile fibromatosis, and the treatment was successfully completed.

Conclusion: Despite its rarity, infantile fibromatosis must be considered a potential cause of urgent, life-threatening conditions in children. Treatment requires individual adaptation and collaboration with a multidisciplinary team.



infantile fibromatosis, rare diseases, compromised airway, pediatric intensive care





Goldblum JR, Folpe AL, Weiss SW. Fibrous Tumors in Infancy and Childhood. In: Enzinger’s and Weiss’s Soft Tissue Tumors, 6th ed. Elsevier Saunders, Philadelphia, PA; 2014:256-87.

Zhao G, Zhu M, Qin C, Liu X, Zhao X. Infantile Myofibromatosis: 32 patients and review of literature. J Pediatr Hematol Oncol. 2020;42(8):495-8. doi: 10.1097/MPH.0000000000001603.

Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, et al. Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol. 2014;71(2):264-70. doi: 10.1016/j.jaad.2014.03.035.

Murray N, Hanna B, Graf N, Fu H, Mylène V, Campeau PM, et al. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. Eur J Med Genet. 2017;60(7):353-8. doi: 10.1016/j.ejmg.2017.02.005.

Linhares ND, Freire MC, Cardenas RG, Bahia M, Puzenat E, Aubin F, et al. Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? Genet Mol Res. 2014;13(3):6287-92. doi: 10.4238/2014.August.15.11.

Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026.

Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024.

Lee JW. Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Clin Genet. 2013;84(4):340-1. doi: 10.1111/cge.12238.

Wu SY, McCavit TL, Cederberg K, Galindo RL, Leavey PJ. Chemotherapy for generalized infantile myofibromatosis with visceral involvement. J Pediatr Hematol Oncol. 2015;37(5):402-5. doi: 10.1097/MPH.0000000000000132.

Levine E, Fréneaux P, Schleiermacher G, Brisse H, Pannier S, Teissier N, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012;59(1):115-20. doi: 10.1002/pbc.23387.

Hausbrandt PA, Leithner A, Beham A, Bodo K, Raith J, Windhager R. A rare case of infantile myofibromatosis and review of literature. J Pediatr Orthop B. 2010;19(1):122-6. doi: 10.1097/BPB.0b013e32832e4756.

Auriti C, Kieran MW, Deb G, Devito R, Pasquini L, Danhaive O. Remission of infantile generalized myofibromatosis after interferon alpha therapy. J Pediatr Hematol Oncol. 2008;30(2):179-81. doi: 10.1097/MPH.0b013e31815e62bb.

Terzic Z, Radonjic D, Paunovic M, Ljaljevic A, Bojic M. Large solitary encapsuled neurofibroma of upper arm – a case report. Sanamed. 2022; 17(1): 33-6. doi: 10.5937/sanamed17-36810.

Hadzic D, Skokic F, Brkic S, Saracevic A. Clinical and laboratory characteristics of neonatal Candida sepsis. Sanamed. 2019; 14(3): 259–67.doi: 10.24125/sanamed.v14i3.364



  • There are currently no refbacks.

Copyright (c) 2023 Devleta Hadzic, Amela Selimovic, Edin Husaric, Almira Cosickic, Evlijana Zulic

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

Scroll to Top