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Musculoskeletal
Soft Tissue Masses
Infantile Myofibroma/Myofibromatosis
Infantile Myofibroma/Myofibromatosis
A. Carlson Merrow, Jr., MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Infantile myofibroma: Solitary, benign fibrous tumor of young children with high rate of spontaneous regression
            • Myofibromatosis: Multifocal disease
              • Multicentric without visceral involvement: Soft tissue &/or bone lesions
              • Multicentric with visceral involvement (or generalized): Additional organ systems are involved with poorer prognosis

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Nuclear Medicine Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    Selected References

                                    1. Manisterski M et al: Diverse presentation and tailored treatment of infantile myofibromatosis: a single-center experience. Pediatr Blood Cancer. 68(2):e28769, 2021
                                    2. Naffaa L et al: Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings. Clin Imaging. 54:40-7, 2019
                                    3. Pekar-Zlotin M et al: Honeycomb appearance of fetal myofibromatosis. Ultrasound Obstet Gynecol. 53(4):549-51, 2019
                                    4. Rekawek P et al: Prenatal sonography of multicentric infantile myofibromatosis: case report and review of the literature. J Clin Ultrasound. 47(8):490-3, 2019
                                    5. Murray N et al: The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. Eur J Med Genet. 60(7):353-8, 2017
                                    6. Tang ER et al: Utility of 18F-FDG PET/CT in infantile myofibromatosis. Clin Nucl Med. 44(8):676-9, 2019
                                    7. Ushida T et al: A large mediastinal tumour invading into the liver with foetal hydrops: a rare case of infantile myofibromatosis. J Obstet Gynaecol. 37(6):821-3, 2017
                                    8. Salerno S et al: Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: a case report. Mol Clin Oncol. 6(4):579-82, 2017
                                    9. Sargar KM et al: Pediatric fibroblastic and myofibroblastic tumors: a pictorial review. Radiographics. 36(4):1195-214, 2016
                                    10. Coleman AM et al: Prenatal diagnosis of infantile myofibroma with postnatal imaging correlation. Fetal Diagn Ther. 40(1):73-8, 2016
                                    11. Wu SY et al: Chemotherapy for generalized infantile myofibromatosis with visceral involvement. J Pediatr Hematol Oncol. 37(5):402-5, 2015
                                    12. Mashiah J et al: Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol. 71(2):264-70, 2014
                                    13. Martignetti JA et al: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 92(6):1001-7, 2013
                                    14. Holzer-Fruehwald L et al: Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. Neuroradiology. 54(12):1389-98, 2012
                                    15. Laffan EE et al: Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics. 29(4):e36, 2009
                                    16. Murphey MD et al: From the archives of the AFIP: musculoskeletal fibromatoses: radiologic-pathologic correlation. Radiographics. 29(7):2143-73, 2009
                                    17. Koujok K et al: Myofibromatosis: imaging characteristics. Pediatr Radiol. 35(4):374-80, 2005
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Definitions

                                              • Infantile myofibroma: Solitary, benign fibrous tumor of young children with high rate of spontaneous regression
                                              • Myofibromatosis: Multifocal disease
                                                • Multicentric without visceral involvement: Soft tissue &/or bone lesions
                                                • Multicentric with visceral involvement (or generalized): Additional organ systems are involved with poorer prognosis

                                            IMAGING

                                            • General Features

                                              • Radiographic Findings

                                                • CT Findings

                                                  • MR Findings

                                                    • Ultrasonographic Findings

                                                      • Nuclear Medicine Findings

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Microscopic Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      Selected References

                                                                      1. Manisterski M et al: Diverse presentation and tailored treatment of infantile myofibromatosis: a single-center experience. Pediatr Blood Cancer. 68(2):e28769, 2021
                                                                      2. Naffaa L et al: Infantile myofibromatosis: review of imaging findings and emphasis on correlation between MRI and histopathological findings. Clin Imaging. 54:40-7, 2019
                                                                      3. Pekar-Zlotin M et al: Honeycomb appearance of fetal myofibromatosis. Ultrasound Obstet Gynecol. 53(4):549-51, 2019
                                                                      4. Rekawek P et al: Prenatal sonography of multicentric infantile myofibromatosis: case report and review of the literature. J Clin Ultrasound. 47(8):490-3, 2019
                                                                      5. Murray N et al: The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. Eur J Med Genet. 60(7):353-8, 2017
                                                                      6. Tang ER et al: Utility of 18F-FDG PET/CT in infantile myofibromatosis. Clin Nucl Med. 44(8):676-9, 2019
                                                                      7. Ushida T et al: A large mediastinal tumour invading into the liver with foetal hydrops: a rare case of infantile myofibromatosis. J Obstet Gynaecol. 37(6):821-3, 2017
                                                                      8. Salerno S et al: Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: a case report. Mol Clin Oncol. 6(4):579-82, 2017
                                                                      9. Sargar KM et al: Pediatric fibroblastic and myofibroblastic tumors: a pictorial review. Radiographics. 36(4):1195-214, 2016
                                                                      10. Coleman AM et al: Prenatal diagnosis of infantile myofibroma with postnatal imaging correlation. Fetal Diagn Ther. 40(1):73-8, 2016
                                                                      11. Wu SY et al: Chemotherapy for generalized infantile myofibromatosis with visceral involvement. J Pediatr Hematol Oncol. 37(5):402-5, 2015
                                                                      12. Mashiah J et al: Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol. 71(2):264-70, 2014
                                                                      13. Martignetti JA et al: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 92(6):1001-7, 2013
                                                                      14. Holzer-Fruehwald L et al: Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement. Neuroradiology. 54(12):1389-98, 2012
                                                                      15. Laffan EE et al: Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Tumors of fibroblastic/myofibroblastic, so-called fibrohistiocytic, muscular, lymphomatous, neurogenic, hair matrix, and uncertain origin. Radiographics. 29(4):e36, 2009
                                                                      16. Murphey MD et al: From the archives of the AFIP: musculoskeletal fibromatoses: radiologic-pathologic correlation. Radiographics. 29(7):2143-73, 2009
                                                                      17. Koujok K et al: Myofibromatosis: imaging characteristics. Pediatr Radiol. 35(4):374-80, 2005