The danger of biopsy in fibrodysplasia ossificans progressiva

摘要

A 2-year-old girl presented with episodic soft tissue swellings for over a year and polyarticular stiffness for half a year. The swellings were painful and mainly involved her head, neck and back region (figure 1). Her neck and shoulders had very limited mobility. Malformations of the great toes were discovered during the physical examination (figure 2). The biopsy of the cephalic swelling done in the local hospital suggested aggressive juvenile fibromatosis, but the swelling enlarged rapidly immediately after the biopsy (figure 3). Kbrodysplasia ossificans progressiva (FOP) was suspected, and the diagnosis was confirmed by the test for the gene of activin A receptor, type I.