Infantile myofibromatosis with visceral involvement and complete spontaneous regression

Abstract

Infantile myofibromatosis is an unusual mesenchymal disorder characterized by the proliferation of tumors in the skin, muscle, bone, and viscera. Two types can be distinguished; the solitary type, defined by the presence of one nodule in the skin, muscle, bone or subcutaneous tissue; and the multicentric type which can be divided into two sub-types. In the first sub-type the lesions are multicentric but without visceral involvement, while in the second, visceral involvement is present. The prognosis of the disease depends on whether visceral involvement is present. Solitary and multicentric nodules without visceral involvement usually have excellent prognosis with spontaneous regression of lesions within 1 to 2 years of diagnosis. On the other hand, visceral lesions are associated with a significant morbidity and mortality, resulting from vital organ obstruction, failure to thrive, or infection. Death in these cases often occurs at birth, or soon after, and is usually due to cardio-pulmonary or gastrointestinal complications. The case being reported here, is that of a female newborn who had multiple skin, subcutaneous tissue, skeletal muscle, bone, and lung lesions immediately after bith. At the age of three years, the child is in good health, her psychomotor development is in accordance with her age group, and the lesions have completely regressed. This is a case of the multicentic type of infantile myofibromatosis with visceral involvement, where all lesions have spontaneously regressed. This is a rarity since the prognosis in the majority of such cases is poor.