myofibromatosis

Summary

Summary: A condition characterized by multiple formations of myofibromas (LEIOMYOMA).

Top Publications

  1. Koujok K, Ruiz R, Hernandez R. Myofibromatosis: imaging characteristics. Pediatr Radiol. 2005;35:374-80 pubmed
    Infantile myofibromatosis is the most common fibrous tumor of infancy. It can involve the skin, muscle, bone, and viscera. This uncommon entity is subdivided into solitary and multicentric forms, with or without visceral involvement.
  2. Martignetti J, Tian L, Li D, Ramirez M, Camacho Vanegas O, Camacho S, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013;92:1001-7 pubmed publisher
    Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera...
  3. Puri A, Rahbar R, Dearden J, Graham R, Lillehei C, Orbach D. Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis. Interv Neuroradiol. 2011;17:261-6 pubmed
    ..The tumor was an unusual manifestation of infantile myofibromatosis and prior attempts at resection had proven impossible due to bleeding...
  4. Chapman P, Judd C, Felgenhauer J, Gruber D, Mornin D. Infantile myofibromatosis of the posterior fossa. AJR Am J Roentgenol. 2005;184:1310-2 pubmed
  5. Larralde M, Hoffner M, Boggio P, Abad M, Luna P, Correa N. Infantile myofibromatosis: report of nine patients. Pediatr Dermatol. 2010;27:29-33 pubmed publisher
    Infantile myofibromatosis is a rare fibrous tumor of infancy that can be solitary or multiple. Although most of the cases are limited to the skin, in some instances systemic involvement can be present...
  6. Ng W, Book K, Ng W. Infantile myofibromatosis of the ovary presenting with ascites. Eur J Pediatr Surg. 2001;11:415-8 pubmed
    We report the first case of ovarian infantile myofibromatosis (IM) presenting with gross ascites in a 2-month-old girl. There was no evidence of recurrence of ascites or tumour 5 years after complete excision...
  7. Ang P, Tay Y, Walford N. Infantile myofibromatosis: a case report and review of the literature. Cutis. 2004;73:229-31 pubmed
    Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera...
  8. Stanford D, Rogers M. Dermatological presentations of infantile myofibromatosis: a review of 27 cases. Australas J Dermatol. 2000;41:156-61 pubmed
    Twenty-seven cases of infantile myofibromatosis presenting with dermatological manifestations were retrospectively reviewed. Approximately 80% were solitary lesions and 50% of these appeared on the head and neck...
  9. Jones V, Philip C, Harilal K. Infantile visceral myofibromatosis--a rare cause of neonatal intestinal obstruction. J Pediatr Surg. 2007;42:732-4 pubmed
    Infantile myofibromatosis (IM) is a rare cause of intestinal obstruction in the newborn. A neonate with generalized IM having multifocal intestinal lesions presenting with intestinal obstruction is reported here...

More Information

Publications62

  1. Alaggio R, Barisani D, Ninfo V, Rosolen A, Coffin C. Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis. Pediatr Dev Pathol. 2008;11:355-62 pubmed publisher
    Infantile myofibromatosis (IM) is a distinctive mesenchymal disorder with different clinical forms, including solitary, multicentric, and generalized with visceral involvement...
  2. Zand D, Huff D, Everman D, Russell K, Saitta S, McDonald McGinn D, et al. Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A. 2004;126A:261-6 pubmed
    We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner...
  3. Tokano H, Ishikawa N, Kitamura K, Noguchi Y. Solitary infantile myofibromatosis in the lateral orbit floor showing spontaneous regression. J Laryngol Otol. 2001;115:419-21 pubmed
    Infantile myofibromatosis is a rare benign tumour usually occurring early in infancy. We describe the case of a 10-year-old boy with solitary infantile myofibromatosis in the left lateral orbit floor which regressed spontaneously...
  4. Cheung Y, Gayden T, Campeau P, LeDuc C, Russo D, Nguyen V, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013;92:996-1000 pubmed publisher
    Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children...
  5. Vered M, Allon I, Buchner A, Dayan D. Clinico-pathologic correlations of myofibroblastic tumors of the oral cavity. II. Myofibroma and myofibromatosis of the oral soft tissues. J Oral Pathol Med. 2007;36:304-14 pubmed
    Myofibroma is a solitary benign tumor of myofibroblasts. Myofibromatosis describes multiple, simultaneous myofibromas at different sites in various organs...
  6. Scheper M, Difabio V, Sauk J, Nikitakis N. Myofibromatosis: a case report with a unique clinical presentation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;99:325-30 pubmed
    Myofibroma and myofibromatosis have been described under different names since 1951...
  7. Sirvent N, Perrin C, Lacour J, Maire G, Attias R, Pedeutour F. Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis. Virchows Arch. 2004;445:537-40 pubmed
    Although infantile myofibromatosis (IM) is the most common fibrous proliferation of infancy, many aspects of this benign lesion have not been explored...
  8. Hatzidaki E, Korakaki E, Voloudaki A, Daskaloyannaki M, Manoura A, Giannakopoulou C. Infantile myofibromatosis with visceral involvement and complete spontaneous regression. J Dermatol. 2001;28:379-82 pubmed
    Infantile myofibromatosis is an unusual mesenchymal disorder characterized by the proliferation of tumors in the skin, muscle, bone, and viscera...
  9. Kaplan S, Ojemann J, Grange D, Fuller C, Park T. Intracranial infantile myofibromatosis with intraparenchymal involvement. Pediatr Neurosurg. 2002;36:214-7 pubmed
    Infantile myofibromatosis is the most common fibrous disorder of infancy and early childhood. Intracranial involvement is rare, with the majority of lesions being localized to the skull or dura with variable intracranial extension...
  10. Li Q, Chen H, Zhang H, Li X, Bu H. [Myopericytoma in the right submandible: a case report]. Zhonghua Bing Li Xue Za Zhi. 2005;34:318-9 pubmed
  11. Gopal M, Chahal G, Al Rifai Z, Eradi B, Ninan G, Nour S. Infantile myofibromatosis. Pediatr Surg Int. 2008;24:287-91 pubmed
    Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians...
  12. Rousseau A, Kujas M, Van Effenterre R, Boch A, Carpentier A, Leroy J, et al. Primary intracranial myopericytoma: report of three cases and review of the literature. Neuropathol Appl Neurobiol. 2005;31:641-8 pubmed
  13. Dompmartin A, Boon L, Labbe D. [Infantile hemangiomas: differential diagnosis and associated anomalies]. Ann Chir Plast Esthet. 2006;51:300-9 pubmed
    ..Knowledge on differential diagnosis enables clinicians to detect hemangiomas that can lead to complications and that necessitate a multidisciplinary approach...
  14. Ichihashi K, Takenaka H, Asai J, Morihara K, Kimura O, Morishima Y, et al. Infantile myofibromatosis of the scrotum. Eur J Dermatol. 2008;18:82-3 pubmed
  15. Ikediobi N, Iyengar V, Hwang L, Collins W, Metry D. Infantile myofibromatosis: support for autosomal dominant inheritance. J Am Acad Dermatol. 2003;49:S148-50 pubmed
    We describe a family in whom infantile myofibromatosis affected 3 generations. The disease expression in this family suggests an autosomal dominant inheritance pattern with variable penetrance.
  16. Kulkarni K, Desai S, Grundy P, Sergi C. Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance. J Pediatr Surg. 2012;47:2312-5 pubmed publisher
    Infantile myofibromatosis (IM) is a benign tumor occurring in infants and young children. Familial IM is rare and the inheritance pattern of IM is unclear...
  17. Yeniel A, Ergenoglu A, Zeybek B, Kazandi M, Akercan F, Ozcan C, et al. Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature. J Clin Ultrasound. 2013;41 Suppl 1:38-41 pubmed publisher
    We present a case of infantile myofibromatosis of the lung detected at 32 weeks' gestation. The fetus was monitored with weekly ultrasound examinations measuring the mass size and amniotic fluid index...
  18. Langer J, Begall K, Presch C, Erbstösser E. [Infantile myofibromatosis of the tongue - a case-report]. Laryngorhinootologie. 2002;81:422-5 pubmed
    We report a case of infantile myofibromatosis of the tongue in a 5 month old female child. The parents reported discovering the tumor in the musculature of the tongue and the tumor had largely grown in size in the space of 4 weeks...
  19. Inamadar A, Palit A, Athanikar S, Sampagavi V, Deshmukh N. Infantile myofibromatosis with multiple congenital anomalies. Pediatr Dermatol. 2005;22:281-2 pubmed
  20. Day M, Edwards A, Weinberg A, Leavey P. Brief report: successful therapy of a patient with infantile generalized myofibromatosis. Med Pediatr Oncol. 2002;38:371-3 pubmed
  21. de Montpreville V, Serraf A, Aznag H, Nashashibi N, Planche C, Dulmet E. Fibroma and inflammatory myofibroblastic tumor of the heart. Ann Diagn Pathol. 2001;5:335-42 pubmed
    ..Morphologic analysis permits the correct diagnosis, while immunochemistry shows a myofibroblastic differentiation in both lesions...
  22. Leaute Labreze C, Labarthe M, Blanc J, Sanyas P, Dosquet C, Taieb A. Self-healing generalized infantile myofibromatosis with elevated urinary bFGF. Pediatr Dermatol. 2001;18:305-7 pubmed
    We report a case of generalized infantile myofibromatosis with favorable outcome despite systemic involvement...
  23. Belanger Quintana A, Aparicio Meix J, Cuevas Santos J, Muñoz Villa A. [Systemic myofibromatosis in an infant]. An Esp Pediatr. 2001;55:83-6 pubmed
    Infantile myofibromatosis is characterized by the presence of solitary or multicentric fibrous nodules in skin, muscle and/or internal organs...
  24. Kasaragod A, Lucia M, Cabirac G, Grotendorst G, Stenmark K. Connective tissue growth factor expression in pediatric myofibroblastic tumors. Pediatr Dev Pathol. 2001;4:37-45 pubmed
    ..pediatric tumors and tumor-like conditions, including angiofibroma, malignant fibrous histiocytoma, infantile myofibromatosis, and malignant hemangiopericytoma...
  25. Galassi E, Pasquini E, Frank G, Marucci G. Combined endoscopy-assisted cranionasal approach for resection of infantile myofibromatosis of the ethmoid and anterior skull base. Case report. J Neurosurg Pediatr. 2008;2:58-62 pubmed publisher
    ..The outcome in this patient underscores the feasibility and safety of endoscopic endonasal surgery even in toddlers and early childhood...
  26. Muraoka I, Ohno Y, Kamitamari A, Okada M, Moriuchi H, Kanematsu T. Congenital occurrence of solitary infantile myofibromatosis of the spleen. J Pediatr Surg. 2008;43:227-30 pubmed publisher
    Infantile myofibromatosis (IM) is a rare soft tissue tumor of infancy and childhood. We report the case of a newborn girl with an abdominal tumor discovered at 32 weeks of gestation by fetal ultrasound...
  27. Cervigón I, Torres L, Palomo A. [Congenital tumor with a vascular appearance]. Actas Dermosifiliogr. 2008;99:305-6 pubmed
  28. Tierney T, Tierney B, Rosenberg A, Krishnamoorthy K, Butler W. Infantile myofibromatosis: a nontraumatic cause of neonatal brachial plexus palsy. Pediatr Neurol. 2008;39:276-8 pubmed publisher
    ..This report emphasizes the importance of differentiating acute from chronic congenital plexus palsy and of recognizing the possibility that infection or neoplasm may underlie the latter...
  29. Li W, Reinisch J. Cysts, pits, and tumors. Plast Reconstr Surg. 2009;124:106e-116e pubmed publisher
    ..In this article, the authors concentrate on the relevant information required to triage and treat these conditions...
  30. Petit T, Grossin M, Fraitag S, Henin D. [Solitary cutaneous infantile myofibromatosis]. Ann Pathol. 2004;24:427-31; quiz 393 pubmed
    Infantile myofibromatosis is the most frequent fibromatosis in childhood. It is a benign proliferation of fibroblasts and myofibroblasts...
  31. Smith A, Orchard D. Infantile myofibromatosis: two families supporting autosomal dominant inheritance. Australas J Dermatol. 2011;52:214-7 pubmed publisher
    We present two families in whom infantile myofibromatosis affects two generations. The disease expression in these families suggests an autosomal dominant mode of inheritance...
  32. Schurr P, Moulsdale W. Infantile myofibroma: a case report and review of the literature. Adv Neonatal Care. 2008;8:13-20 pubmed publisher
    ..Biopsy confirmed infantile myofibromatosis (IM), an uncommon soft tissue neoplasm that may present at birth or in early infancy...
  33. Macintosh P, Grob S, Stagner A, Kazlas M, Jakobiec F, Yoon M, et al. Multicentric myofibromatosis presenting as a large congenital eyelid myofibroma. J AAPOS. 2016;20:70-3 pubmed publisher
    Infantile myofibromatosis is a rare mesenchymal neoplasm that commonly involves the head and neck but rarely the eyelid. We report the case of a newborn boy referred for evaluation of a left eyelid lesion that occluded the visual axis...
  34. Scott R, Blank K, Proffer L, Kraus E, Heim Hall J. Perivascular myoma of myopericytoma and myofibromatosis-type arising in a chronic scar. J Cutan Pathol. 2006;33:231-5 pubmed
    We describe a case of a cutaneous perivascular myoma with features overlapping between the myofibromatosis and the myopericytoma type...
  35. Konishi E, Mazaki T, Urata Y, Tanaka K, Kanoe H, Ikenaga M, et al. Solitary myofibroma of the lumbar vertebra: adult case. Skeletal Radiol. 2007;36 Suppl 1:S86-90 pubmed
    ..This case of solitary myofibroma of bone is exceptionally rare because of its occurrence in an adult older than 20 years of age and its location at an extra-craniofacial site...
  36. Klein A, Schoem S, Altman A, Eisenfeld L. Inflammatory myofibroblastic tumor in the neonate: a case report. Otolaryngol Head Neck Surg. 2003;128:145-7 pubmed
  37. Naz F, Nazir Z, Chishti K, Aslam N, Siddiqui S. Solitary infantile myofibromatosis of the skull. J Coll Physicians Surg Pak. 2007;17:297-8 pubmed
    ..Investigations lead to a diagnosis of infantile myofibromatosis (IM). Wide local excision was performed. At one year follow-up, no recurrence was noted.
  38. Yamamoto T, Mizuno K, Hanioka K. Solitary infantile myofibromatosis in the femur. Pathol Int. 2000;50:255-7 pubmed
    We report on a case of the solitary type of infantile myofibromatosis of the right femur in an 11-month female. Radiographically, a well-defined osteolytic lesion was seen in the diaphysis of the right femur...
  39. Hocar O, Sab I, Akhdari N, Amal S, Ouladsiad M, Belaabidia B. Recurrent infantile myofibromatosis in a 19-month-old boy presenting as ulcerated plaque. Skinmed. 2013;11:371-3 pubmed
    ..The patient was healthy with a nonsignificant, medical history including no use of medications, no known drug allergies, and no significant family history of disease...
  40. Counsell S, DeVile C, Mercuri E, Allsop J, Birch R, Muntoni F. Magnetic resonance imaging assessment of infantile myofibromatosis. Clin Radiol. 2002;57:67-70 pubmed
  41. Levine E, Freneaux P, Schleiermacher G, Brisse H, Pannier S, Teissier N, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012;59:115-20 pubmed publisher
    Infantile myofibromatosis is characterized by proliferation of benign fibrous tumors arising in skin, subcutaneous tissue, muscle, or bone. Solitary and multicentric forms are described...
  42. Merciadri P, Pavanello M, Nozza P, Consales A, Ravegnani G, Piatelli G, et al. Solitary infantile myofibromatosis of the cranial vault: case report. Childs Nerv Syst. 2011;27:643-7 pubmed publisher
    Infantile myofibromatosis is a mesenchymal disorder of early childhood characterized by the formation of tumors in the skin, muscle, viscera, bone, and subcutaneous tissue...
  43. Zambrano E, Esper F, Rosenberg R, Kim J, Reyes Mugica M. Chronic granulomatous disease. Pediatr Dev Pathol. 2003;6:577-81 pubmed
  44. Diop B, Konate I, Ka S, Sall I, Fall D, Dieng M, et al. Mesenteric myofibroblastic tumor: NSAID therapy after incomplete resection. J Visc Surg. 2011;148:e311-4 pubmed publisher
    ..Recurrence was noted 3 months after surgery; treatment with steroidal and then non-steroidal anti-inflammatory medications (NSAIDs) resulted in clinical and radiologic regression of the tumor...
  45. Duteille F, Dautel G, Sommelet D. Desmoid tumours of the hand. J Hand Surg Br. 1999;24:628-30 pubmed
    ..Desmoid tumours of the hand are difficult to treat because of the many important structures concentrated in the area as well as the infiltrative and recurrent character of these tumours...
  46. Cessna M, Zhou H, Sanger W, Perkins S, Tripp S, Pickering D, et al. Expression of ALK1 and p80 in inflammatory myofibroblastic tumor and its mesenchymal mimics: a study of 135 cases. Mod Pathol. 2002;15:931-8 pubmed
    ..No staining was observed in nodular fasciitis, desmoid, infantile myofibromatosis, infantile fibrosarcoma, synovial sarcoma, leiomyoma, or myofibrosarcoma...
  47. Kuo F, Huang S, Eng H, Chuang J, Chen W. Solitary infantile myofibromatosis: report of two cases. Chang Gung Med J. 2002;25:393-8 pubmed
    Infantile myofibromatosis (IM) is an unusual tumor of infancy and early childhood. It typically presents as a solitary or multicentric nodular mass involving skin, soft tissue, bone, or viscera...
  48. Tomkowicz A, Kraus Filarska M. [Airway remodeling in asthma]. Pol Merkur Lekarski. 2006;20:99-103 pubmed
    ..The results of these studies are often contradictory and there is still little understanding of the mechanisms underlying lung remodeling in asthma...
  49. Turner J, Skinner M, Caplan M, Gillespie M. Pathology quiz case 1. Infantile myofibromatosis. Arch Otolaryngol Head Neck Surg. 2007;133:620, 622-3 pubmed
  50. Wright C, Corbally M, Hayes R, McDermott M. Multifocal infantile myofibromatosis and generalized fibromuscular dysplasia in a child: evidence for a common pathologic process?. Pediatr Dev Pathol. 2004;7:385-90 pubmed
    Infantile myofibromatosis (IM) is a condition characterized by the formation of spindle cell tumors of skin, soft tissue, and viscera...
  51. Delorme N, Dore M, Croue A, Maillard H, Verret J. [Unusual presentation of infantile myofibromatosis with an ulcered plaque]. Ann Dermatol Venereol. 2005;132:338-41 pubmed
    Infantile myofibromatosis is a rare fibrovascular-like, isolated or multicentric tumor, occasionally of the bone or an organ and appearing before the age of 2...
  52. Kim E, Wang K, Lee J, Phi J, Park S, Cheon J, et al. Congenital solitary infantile myofibromatosis involving the spinal cord. J Neurosurg Pediatr. 2013;11:82-6 pubmed publisher
    Infantile myofibromatosis, a rare mesenchymal disorder that develops in early childhood, is classified by the number of lesions that occur: solitary or multicentric. Involvement of the CNS is unusual in either type...
  53. Benhammou A, Boujemaoui M, Bencheikh R, Benbouzid M, Boulaich M, Essakali L, et al. [Giant form of infantile myofibromatosis located on the jaw]. Rev Laryngol Otol Rhinol (Bord). 2006;127:171-4 pubmed
    Infantile myofibromatosis is a rare fibrovascular-like tumour, characterized by the development of single or multiple nodular lesions arising from cutaneous, subcutaneous, muscular bone or visceral structures, diagnosed before 2 years.