ABSTRACT
Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". A previously well young girl was referred by her general practitioner with an increasingly large, mildly tender, soft lump on the anterior aspect of her right tibia. Plain radiographs demonstrated soft tissue thickening overlying the anterior tibia, without appreciable periosteal ossification. Magnetic resonance imaging (MRI) illustrated a single central fluid-fluid level and periosteal elevation with saucerisation of the anterior tibial cortex and mild surrounding oedema. Histopathology revealed a large plexiform neurofibroma. Interestingly, this was associated with haemorrhagic change and a peripheral rim of florid reactive new bone formation. This unusual presentation was discussed at a multidisciplinary bone and soft tissue tumour meeting, where in combination with the clinical history of café au lait spots and positive family history, a consensus diagnosis of NF-1 was made. To date, there have only been limited case reports of this rare pathological process. In summary, this case report accounts an acute presentation of this rare osseous manifestation of NF-1, being the first to clearly demonstrate a timeline of subperiosteal haematoma with subsequent subperiosteal bone proliferation. The clinical reasoning and radiological features for such a presentation are also described.
