Fibreuze dysplasie: een heterogeen ziektebeeld

Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment. Third, a 7-year-old girl with McCune-Albright syndrome who was diagnosed with precocious puberty as a baby and who had extensive disease throughout the skeleton, including multiple lesions in the craniofacial region. The aetiology, clinical expression, diagnostic work-up and therapeutic options for fibrous dysplasia are discussed in a short résumé of the disease.

Conflict of interest and financial support: B.C.J. Majoor has received a grant for research into fibrous dysplasia from the Bontius Stichting - Stichting Beter Bot; N.A.T. Hamdy has received several grants, honoraria and other payments. ICMJE forms provided by the authors are available online along with the full text of this article.