John Libbey Eurotext

European Journal of Dermatology


Congenital myofibromatosis in two siblings Volume 16, numéro 2, March-April 2006

Department of Dermatology, M. Bufalini Hospital, Viale Ghirotti, 286, 47023 Cesena, Italy

Infantile myofibromatosis (IM) is a rare mesenchymal disorder characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. Although most cases are sporadic, there have been a few reports of a familial pattern of inheritance. In most cases, diagnosing IM is not difficult. However, IM should be differentiated from neurofibromatosis, paediatric sarcomas, nodular fasciitis, fibrous hamartoma of infancy, and hyaline juvenile fibromatosis. The prognosis for IM depends on the degree of visceral involvement. Since spontaneous tumoral regression is usual, in cases of limited involvement therapeutic abstention and patient observation are recommended. Surgery, chemotherapy or radiotherapy are reserved for patients with multiple visceral localizations, particularly in the lung and gastrointestinal tract, which may have a worse prognosis and potentially fatal outcome. We report on a family in which two siblings, born from non-consanguineous parents, were affected by congenital myofibromatosis. In both patients, tumors were present at birth, with multicentric subcutaneous, muscular, skeletal and visceral involvement. The growing subcutaneous myofibromas were surgically removed, while the smallest ones disappeared spontaneously over the course of 24 months.