Characterized by multiple fibroblastic tumors involving skin, striated muscles, bones, and viscera. Tumors are present at birth or develop during the first weeks of life.
This is a rare medical condition with an established incidence rate approximately 1:150,000 to 1:400,000 children worldwide. However, it is believed underdiagnosed or misdiagnosed, making it difficult to determine its exact prevalence. There is no racial, ethnic group, or gender variabilities. It affects neonates and young children up to 2 years old. It is infrequently observed in older children and adults.
Autosomal recessive transmission is suggested, but there are also cases of autosomal dominance.
Solitary or multicentric fibroblastic tumors of skin, striated muscle, bone, and viscera, which are congenital or develop in the first weeks of postnatal life. The multicentric type may be visceral or nonvisceral. The former has a higher mortality and may involve lungs, myocardium, gastrointestinal tract, and rarely the central nervous system. Nonvisceral tumors tend to regress spontaneously.
Patients may present for surgery for removal of locally aggressive tumors. Very rarely patients with central nervous system involvement present with extrinsic cord compression or with an intracranial space-occupying lesion. One-third of solitary lesions affect head and neck structures.
EJ: Infantile myofibromatosis: Case report of a solitary hand lesion with emphasis on differential diagnosis and management. Ann Plast Surg