A case of congenital multiple myofibromatosis developing in an infant

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.

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.

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.