Myofibromatosis

Israel Meizner, MD

Definition: Infantile myofibromatosis is a mesenchymal disorder of infancy characterized by the formation of tumors in skin, subcutaneous tissue, muscle, bone and viscera.

Prevalence: Until now 175 cases of Infantile Myofibromatosis have been published in the English literature. The incidence of soft tissue tumors in newborns has been estimated to be 1 in 150,000 live births.

Etiology: Unknown. An association to excess estrogen production has been proposed.

Diagnosis: The diagnosis relies on identification of solid tumor masses of variable size at different locations, which are well circumscribed and sometimes well encapsulated.

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Longitudinal scan of the fetal spine. Notice a large tumor mass distorting the spine (arrow). The confirmed sonographic diagnosis was myofibromatosis.

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Transverse scan of the fetal abdomen. Notice the tumor mass (arrow).

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MRI picture of the fetus at 30 weeks of pregnancy. Note the tumor mass (arrow).

Prognosis: The prognosis depends on the presence of visceral involvement. Of the 175 collected cases in the literature, 27 (15.5%) died. All deaths were associated with visceral involvement.

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