Skip to main content

Infantile Myofibromatosis

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling
  • 80 Accesses

Abstract

Infantile myofibromatosis, previously known as congenital generalized fibromatosis, is the most common fibrous tumor of infancy (Wiswell et al. 1988). It is characterized by the formation of tumors, either in a solitary or in a multicentric fashion, in the skin, muscle, viscera, bone, and subcutaneous tissue.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

References

  • Alberti, L. R., Souto Bittencourt, P. F., Rodrigues Ferreira, A., et al. (2012). Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. Endoscopy, 44, E258–E259.

    Article  PubMed  Google Scholar 

  • Arabin, B., Hack, K., Nooij, L., et al. (2009). Discrepant findings in a monoamniotic twin pregnancy affected by infantile myofibromatosis. Ultrasound in Obstetrics and Gynecology, 33, 488–490.

    Article  CAS  PubMed  Google Scholar 

  • Azzam, R., Abboud, M., Muwakkit, S., et al. (2009). First-line therapy of generalized infantile myofibromatosis with low-dose vinblastine and methotrexate. Pediatric Blood & Cancer, 52, 308.

    Article  Google Scholar 

  • Baird, P. A., & Worth, A. J. (1976). Congenital generalized fibromatosis: An autosomal recessive condition? Clinical Genetics, 9, 488–494.

    Article  CAS  PubMed  Google Scholar 

  • Bellman, B., Wooming, G., Landsman, L., et al. (1991). Infantile myofibromatosis: A case report. Pediatric Dermatology, 8, 306–309.

    Article  CAS  PubMed  Google Scholar 

  • Bhatkule, M. A., Dhawle, M. S., Kumbhakama, N. R., et al. (2015). Infantile myofibromatosis of uterus: A case report. Indian Journal of Cancer, 52, 452–453.

    Article  CAS  PubMed  Google Scholar 

  • Bračko, M., Cindro, L., & Golouh, R. (1992). Familial occurrence of infantile myofibromatosis. Cancer, 69, 1294–1299.

    Article  PubMed  Google Scholar 

  • Brill, P. W., Yandow, D. R., Langer, L. O., et al. (1982). Congenital generalized fibromatosis-case report and literature review. Pediatric Radiology, 12, 269–278.

    Article  CAS  PubMed  Google Scholar 

  • Cheung, Y. H., Gayden, T., Campeau, P. M., et al. (2013). A recurrent PDGFRB mutation causes familial infantile myofibromatosis. American Journal of Human Genetics, 92, 996–1000.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chung, E. B., & Enzinger, F. M. (1981). Infantile myofibromatosis. Cancer, 48, 1807–1818.

    Article  CAS  PubMed  Google Scholar 

  • Coffin, C. M., Neilson, K. A., Ingels, S., et al. (1995). Congenital generalized myofibromatosis: A disseminated angiocentric myofibromatosis. Pediatric Pathology & Laboratory Medicine, 15, 571–587.

    Article  CAS  Google Scholar 

  • Counsell, S. J., Devile, C., Mercuri, E., et al. (2002). Magnetic resonance imaging assessment of infantile myofibromatosis. Clinical Radiology, 57, 67–70.

    Article  CAS  PubMed  Google Scholar 

  • Day, M., Edwards, A. O., Weinberg, A., et al. (2002). Successful therapy of a patient with infantile generalized fibromatosis. Medical and Pediatric Oncology, 38, 371–373.

    Article  PubMed  Google Scholar 

  • Duffy, M. T., Harris, M., & Hornblass, A. (1997). Infantile myofibromatosis of orbital bone. A case report with computed tomography, magnetic resonance imaging, and histologic findings. Ophthalmology, 104, 1471–1474.

    Article  CAS  PubMed  Google Scholar 

  • Fletcher, C. D. M., Achu, P., Noorden, S. V., et al. (1987). Infantile myofibromatosis: A light microscopic, histochemical and immunohistochemical study suggesting true smooth muscle differentiation. Histopathology, 11, 245–258.

    Article  CAS  PubMed  Google Scholar 

  • Fukasawa, Y., Ishikura, H., Takada, A., et al. (1994). Massive apoptosis in infantile myofibromatosis. A putative mechanism of tumor regression. American Journal of Pathology, 144, 480–485.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Hasegawa, T., Hirose, T., Seki, K., et al. (1993). Solitary infantile myofibromatosis of bone. An immunohistochemical and ultrastructural study. American Journal of Surgical Pathology, 17, 308–313.

    Article  CAS  PubMed  Google Scholar 

  • Hasegawa, M., Kida, S., Yamashima, T., et al. (1995). Multicentric infantile myofibromatosis in the cranium: Case report. Neurosurgery, 36, 1200–1203.

    Article  CAS  PubMed  Google Scholar 

  • Holzer-Fuehwald, L., Blaser, S., Rossi, A., et al. (2012). Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. Neuroradiology, 54, 1389–1398.

    Article  Google Scholar 

  • Inwards, C. Y., Unni, K. K., Beabout, J. W., et al. (1991). Solitary congenital fibromatosis (infantile myofibromatosis) of bone. The American Journal of Surgical Pathology, 15, 935–941.

    Article  CAS  PubMed  Google Scholar 

  • Jennings, T. A., Sabetta, J., Duray, P. H., et al. (1984). Infantile myofibromatosis. Evidence for an autosomal-dominant disorder. The American Journal of Surgical Pathology, 8, 529–538.

    Article  CAS  PubMed  Google Scholar 

  • Johnson, G. L., Baisden, B. L., & Fishman, E. K. (1997). Infantile myofibromatosis. Skeletal Radiology, 26, 611–614.

    Article  CAS  PubMed  Google Scholar 

  • Kaplan, S. S. (2002). Intracranial infantile myofibromatosis with intraparenchymal involvement. Pediatric Neurosurgery, 36, 214–217.

    Article  PubMed  Google Scholar 

  • Kim, E. J., Wang, K.-C., Lee, J. Y., et al. (2013). Congenital solitary infantile myofibromatosis involving the spinal cord. Case report. Journal of Neurosurgery. Pediatrics, 11, 82–86.

    Article  PubMed  Google Scholar 

  • Kiyohara, T., Maruta, N., Iino, S., et al. (2016). CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors. Journal of Dermatology, 2016 April 14. [Epub ahead of print].

    Google Scholar 

  • Koujok, K., Ruiz, R. E., & Hernandez, R. J. (2005). Myofibromatosis: Imaging characteristics. Pediatric Radiology, 35, 374–380.

    Article  PubMed  Google Scholar 

  • Kubota, A., Imano, M., Yonekura, T., et al. (1999). Infantile myofibromatosis of the triceps detected by prenatal sonography. Journal of Clinical Ultrasound, 27, 147–150.

    Article  CAS  PubMed  Google Scholar 

  • Kulkarni, K., Desai, S., Grundy, P., et al. (2012). Infantile myofibromatosis: Report on a family with autosomal dominant inheritance and variable penetrance. Journal of Pediatric Surgery, 47, 2312–2315.

    Article  PubMed  Google Scholar 

  • Larralde, M., Hoffner, M. V., Boggio, P., et al. (2010). Infantile myofibromatosis: Report of nine patients. Pediatric Dermatology, 27, 29–33.

    Article  PubMed  Google Scholar 

  • Liew, S. H., & Haynes, M. (1981). Localized form of congenital generalized fibromatoses. A report of three cases with myofibroblasts. Pathology, 13, 257–266.

    Article  CAS  PubMed  Google Scholar 

  • Linhares, N. D., Freire, M. C. M., Cardenas, R. G. C. C. L., et al. (2014). Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. European Journal of Medical Genetics, 57, 643–648.

    Article  PubMed  Google Scholar 

  • MacIntosh, P. W., Grob, S. R., Stagner, A. M., et al. (2016). Multicentric myofibromatosis presenting as a large congenital eyelid myofibroma. Journal of AAPOS, 20, 70–73.

    Article  PubMed  Google Scholar 

  • Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C. M., et al. (2013). Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. American Journal of Human Genetics, 92, 1001–1007.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mashiah, J., Hadj-Rabia, S., Dompmartin, A., et al. (2014). Infantile myofibromatosis: A series of 28 cases. Journal of the American Academy of Dermatology, 71, 264–270.

    Article  PubMed  Google Scholar 

  • Meizner, I., Shalev, J., & Mashiach, R. (2000). Prenatal ultrasound diagnosis of infantile myofibromatosis – A case report. Ultrasound in Obstetrics & Gynecology, 16, 84–86.

    Article  CAS  Google Scholar 

  • Muraoka, I., Ohno, Y., Kamitamari, A., et al. (2008). Congenital occurrence of solitary infantile myofibromatosis of the spleen. Journal of Pediatric Surgery, 43, 227–230.

    Article  PubMed  Google Scholar 

  • Narchi, H. (2001). Four half-siblings with infantile myofibromatosis: A case for autosomal recessive inheritance. Clinical Genetics, 59, 134–135.

    Article  CAS  PubMed  Google Scholar 

  • Ng, W. T., Book, K. S., & Ng, W. F. (2001). Infantile myofibromatosis of the ovary presenting with ascites. European Journal of Pediatric Surgery, 11, 415–418.

    Article  CAS  PubMed  Google Scholar 

  • Orozco-Covarrubias, L., Soriano-Hernandez, Y., Duran-McKinster, C., et al. (2002). Infantile myofibromatosis: A cause of leg length discrepancy. Pediatric Dermatology, 19, 520–522.

    Article  PubMed  Google Scholar 

  • Raney, B., Evans, A., Granowetter, L., et al. (1987). Nonsurgical management of children with recurrent or unresectable fibromatosis. Pediatrics, 79, 394–398.

    CAS  PubMed  Google Scholar 

  • Roggli, V. L., Kim, H. S., & Hawkins, E. (1980). Congenital generalized fibromatosis with visceral involvement. A case report. Cancer, 45, 954–960.

    Article  CAS  PubMed  Google Scholar 

  • Schaffzin, E. A., Chung, S. M. K., & Kaye, R. (1972). Congenital generalized fibromatosis with complete spontaneous regression. Journal of Bone and Joint Surgery, 54-A, 657–662.

    Google Scholar 

  • Schrodt, B. J., & Callen, J. (1999). Pediatr: A case of congenital multiple myofibromatosis developing in an infant. Pediatrics, 104, 113–115.

    Article  CAS  PubMed  Google Scholar 

  • Shnitka, T. K., Asp, D. M., & Horner, R. H. (1958). Congenital generalized fibromatosis. Cancer, 11, 627–639.

    Article  CAS  PubMed  Google Scholar 

  • Sirvent, N., Perrin, C., Lacour, J. P., et al. (2004). Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis. Virchows Archiv, 445, 537–540.

    Article  PubMed  Google Scholar 

  • Söylemezoglu, F., Tezel, G. G., Köybasoglu, F., et al. (2001). Cranial infantile myofibromatosis: Report of three cases. Child’s Nervous System, 17, 524–527.

    Article  PubMed  Google Scholar 

  • Spadola, L., Anooshiravani, M., Sayegh, Y., et al. (2002). Generalised infantile myofibromatosis with intracranial involvement: Imaging findings in a newborn. Pediatric Radiology, 32, 872–874.

    Article  PubMed  Google Scholar 

  • Stanford, D., & Rogers, M. (2000). Dermatological presentations of infantile myofibromatosis: A review of 27 cases. Australasian Journal of Dermatology, 41, 156–161.

    Article  CAS  PubMed  Google Scholar 

  • Stenman, G., Nadal, N., Persson, S., et al. (1999). del(6)(q12q15) as the sole cytogenetic anomaly in a case of solitary infantile myofibromatosis. Oncology Reports, 6, 1101–1104.

    CAS  PubMed  Google Scholar 

  • Tamburrini, G., Gessi, M., Colosimo, C., Jr., et al. (2003). Infantile myofibromatosis of the central nervous system. Child’s Nervous System, 19, 650–654.

    Article  CAS  PubMed  Google Scholar 

  • Teng, P., Warden, M. J., & Cohn, W. L. (1963). Congenital generalized fibromatosis (renal and skeletal) with complete spontaneous regression. Journal of Pediatrics, 62, 748–753.

    Article  CAS  PubMed  Google Scholar 

  • Venencie, P. Y., Bigel, P., Desgruelles, C., et al. (1987). Infantile myofibromatosis. Report of two cases in one family. British Journal of Dermatology, 117, 255–259.

    Article  CAS  PubMed  Google Scholar 

  • Wada, H., Akiyama, H., Seki, H., et al. (1998). Spinal canal involvement in infantile myofibromatosis: Case report and review of the literature. Journal of Pediatric Hematology/Oncology, 20, 353–356.

    Article  CAS  PubMed  Google Scholar 

  • Weaver, M. S., Navid, F., Huppmann, A., et al. (2015). Vincristine and dactinomycin in infantile myofibromatosis with a review of treatment options. Journal of Pediatric Hematology/Oncology, 37, 237–241.

    Article  CAS  PubMed  Google Scholar 

  • Wiswell, T. E., Sakas, E. L., Stephenson, S. R., et al. (1985). Infantile myofibromatosis. Pediatrics, 76, 981–984.

    CAS  PubMed  Google Scholar 

  • Wiswell, T. E., Davis, J., Cunningham, B. E., et al. (1988). Infantile myofibromatosis: The most common fibrous tumor of infancy. Journal of Pediatric Surgery, 23, 315–318.

    Article  CAS  PubMed  Google Scholar 

  • Wiswell, T., Davis, J., Cunningham, B. E., et al. (1998). Infantile myofibromatosis: The most common fibrous tumor of infancy. Journal of Pediatric Surgery, 23, 314–318.

    Article  Google Scholar 

  • Yeniel, A. O., Ergenoglu, A. M., Zeybek, B., et al. (2013). Prenatal diagnosis of infantile myofibromatosis of the lung: A case report and review of the literature. Journal of Clinical Ultrasound, 41, 38–41.

    Article  PubMed  Google Scholar 

  • Zand, D. J., Huff, D., Everman, D., et al. (2004). Autosomal dominant inheritance of infantile myofibromatosis. American Journal of Medical Genetics, 126A, 261–266.

    Article  PubMed  Google Scholar 

  • Zeller, B., Storm-Mathisen, I., Smevik, B., et al. (1997). Cure of infantile myofibromatosis with severe respiratory complications without antitumor therapy. European Journal of Pediatrics, 156, 841–844.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Infantile Myofibromatosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_134-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_134-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics