Overview
Infantile myofibromatosis is a rare disorder characterized by the formation of tumors composed of smooth muscle and fibroblasts, affecting skin, soft tissues, bone, viscera, and rarely the central nervous system 12.Diagnosis
Clinical Presentation: Multiple nodular lesions in bone, muscle, viscera, subcutaneous tissue, and potentially the central nervous system 12.
Imaging: Utilize plain films, ultrasound (US), and MRI for comprehensive assessment, especially in cases with intracranial involvement 2.
Histopathology: Essential for confirming the presence of smooth muscle and fibroblast proliferation within lesions 12.Management
Chemotherapy: Used for severe cases, particularly those with visceral involvement, showing potential for tumor regression 1.
Interferon-alpha: May induce regression and maturation of lesions, observed in a patient with Turner's syndrome 3.
Monitoring: Regular follow-up imaging to monitor for complications such as aneurysms or fibromuscular dysplasia 1.Special Populations
Pediatrics: Early intervention is crucial due to the potential severity and multifocal nature of the disease in infants 12.
Comorbidities: Turner's syndrome patients may benefit from specific treatments like interferon-alpha 3.Key Recommendations
Initiate chemotherapy for severe generalized infantile myofibromatosis with visceral involvement to promote tumor regression (Evidence: Moderate 1).
Consider interferon-alpha treatment in patients with Turner's syndrome and myofibromatosis for potential lesion regression (Evidence: Weak 3).
Regular imaging follow-up is essential to detect complications such as arterial aneurysms (Evidence: Expert opinion).References
1 Brasseur B, Chantrain CF, Godefroid N, Sluysmans T, Anslot C, Menten R et al.. Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis. Pediatric nephrology (Berlin, Germany) 2010. link
2 Spadola L, Anooshiravani M, Sayegh Y, Jéquier S, Hanquinet S. Generalised infantile myofibromatosis with intracranial involvement: imaging findings in a newborn. Pediatric radiology 2002. link
3 Savaşan S, Fulgenzi LA, Rabah R, Mohamed AN, Ravindranath Y. Generalized infantile myofibromatosis in a patient with Turner's syndrome: a trial of interferon-alpha. The Journal of pediatrics 1998. link70114-3)