NORD gratefully acknowledges Wendy K. Chung, MD, PhD, Department of Pediatrics, Columbia University, for assistance in the preparation of this report.
Infantile myofibromatosis is a rare disorder characterized by the growth of one or more benign (noncancerous) tumors. The skin, bone, muscle, soft tissue, and, in rare cases, the internal organs (viscera) can be affected. The severity and specific symptoms present varies greatly from one person to another based, in part, upon the specific location and number of tumors. These tumors do not spread (metastasize), but can grow large enough to cause symptoms by compressing or damaging nearby organs or other parts of the body. Most cases affect infants or young children, but adult cases have been described in the medical literature. Most cases of infantile myofibromatosis occur randomly for no apparent reason (sporadically). However, familial cases (in which more than one family member is affected) have been identified; two different genes, PDGFRB and NOTCH3, have been determined to cause some of these cases. Treatment depends upon the location of the lesion(s). Spontaneous regression has been reported to occur in many cases; however, recurrence of the lesions has also been reported. Surgery is the main treatment option.
Infantile myofibromatosis was first described as a distinct entity in the medical literature in 1954 by Dr. A.P. Stout. The disorder was initially referred to as congenital generalized fibromatosis. Additional cases were reported in the medical literature under a variety of names including multiple congenital fibromatosis, multiple hamartomas, multiple vascular leiomyomatosis of the newborn, and multiple congenital fibromatosis. In 1981, Drs. Chung and Enzinger provided a detailed review of the disorder and introduced the name infantile myofibromatosis.
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