A Case of Congenital Multiple Myofibromatosis Developing in an Infant

A case is presented of a baby who developed myofibromatosis one month after birth. Infantile myofibromatosis is a disorder characterized by fibrous tumors in the skin, muscle, bone, and/or gastrointestinal tract. It is the most common fibrous tumor of infancy. If the gastrointestinal tract is not affected, the child will have an excellent prognosis. The tumors may regress spontaneously within 1 to 2 years. Children with involvement of the gastrointestinal tract have a more serious prognosis because the tumors can obstruct organs and prevent them from functioning properly.
Background. Infantile myofibromatosis is marked by the development of firm, discrete, flesh-colored to purple nodules in skin, muscle, bone, and/or subcutaneous tissues. In cases without visceral involvement, the prognosis is excellent with expected spontaneous regression of nodules in 1 to 2 years. Visceral lesions are associated with significant morbidity and mortality generally within the first few months of life secondary to obstruction of a vital organ, failure to thrive, or infection. Observation. We present a case of congenital myofibromatosis initially presenting as a single, asymptomatic nodule on the midback of an otherwise healthy 1-month-old white boy. Over the subsequent 6 months, the child developed a left-sided head tilt with the formation of additional myofibromas of the skin and musculature, but without visceral involvement. Physical examinations have continued to show age-appropriate growth and development. Conclusion. Clinicians should be aware of this rare but potentially life-threatening entity and consider infantile myofibromatosis in the differential diagnosis of pediatric dermal and subcutaneous nodules, particularly when associated with a new onset of head tilt. Close clinical follow-up is recommended in all cases of infantile myofibromatosis. Pediatrics 1999;104:113-115; infantile myofibromatosis, leiomyoma, head tilt.
Infantile myofibromatosis is a mesenchymal disorder characterized by the proliferation of fibrous tumors in the skin, muscle, bone, and/or viscera, and is the most common fibrous tumor of infancy. Solitary [...]