Fatco syndrome (fibular Aplasia, tibial campomelia and oligosyndactyly)

Context: Craniotubular hyperostotes such as Van Buchem disease (VBD) and sclerosteosis are rare disorders, characterized by bone overgrowth, resulting in complications from the involvement of the skull. Management of these conditions is surgical, to relief the symptoms, with no systemic approach available to counteract the underlying hyperostosis. Glucocorticoids (GCs) decrease bone formation by a direct effect on osteoblasts. Objective: To determine if GCs can arrest increased bone formation in hyperostosis. Method: Two patients with severe craniotubular hyperostosis, who had developed intracranial hypertension due to hyperostosis of the skull, were treated with prednisolone and followed up to two years, with regular assessment of bone marker levels, bone mineral density, and bone histology of iliac crest, after double labeling with tetracycline. Results: Complains related to the increased intracranial pressure diminished quickly after starting prednisone. Treatment decreased bone turnover, assessed biochemically and histologically, and there was a clear dose-effect relationship. Conclusion: CGs are able to counteract the unrestrained bone formation in craniotubular hyperostosis, and can therefore be used as an additional, systemic therapy in patients with increased risk of neurological complications due to bone overgrowth. This work was supported by, and carried out within the FP7 Programme TALOS, funded by the EC. Disclosure of Interest: None declared