[Fibrous dysplasia of bone].
Fibrous dysplasia of bone is a congenital non hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis. Prevalence is difficult to estimate, due to frequent asymptomatic lesions. Bone lesions are mono- or polyostotic and may be associated with bone pain and fragility, leading to fractures. In some patients or bone sites, they are hypertrophic, responsible for neurological complications. Imaging and, when necessary, histology are the cornerstones of the diagnosis. A common molecular defect, i.e. activating mutations of the GNAS gene, encoding the a subunit of the Gs protein in target cells, is responsible for bone cell alterations as well as for the involvement of other cells/tissues bearing the same molecular defect (melanocytes, endocrine cells). These mutations affect only somatic cells and are therefore not hereditary: antenatal diagnosis is not appropriate for this disease and genetic counselling is not very useful, except for reassuring the patients. The conventional therapeutic approach is essentially symptomatic (pain killers) and orthopaedic (prevention and treatment of bone complications). Recent publications have focused attention on pamidronate, which rapidly relieves bone pain in most patients, and progressively increases bone mineralization in osteolytic areas in about half of the patients. Tubular phosphate wasting is common and should be treated with phosphate supplement and calcitriol. The prognosis should improve with therapeutic advances, but this remains to be properly evaluated.
Orcel
Philippe
P
Service de rhumatologie B (pathologie osseuse et métabolique phosphocalcique) et Centre de référence national pour les maladies osseuses constitutionnelles, pôle appareil locomoteur, hôpital Lariboisière (AP-HP), 75475 Paris. philippe.orcel@lrb.aphp.fr
Chapurlat
Roland
R
D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002117:Calcitriol / Q000627:therapeutic use; D002864:Chromogranins; D004164:Diphosphonates / Q000627:therapeutic use; D005357:Fibrous Dysplasia of Bone / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D050723:Fractures, Bone / Q000209:etiology; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D006984:Hypertrophy; D009154:Mutation / Q000235:genetics; D010012:Osteogenesis / Q000502:physiology; D010710:Phosphates / Q000627:therapeutic use
D050071:Bone Density Conservation Agents; D002864:Chromogranins; D004164:Diphosphonates; D010710:Phosphates; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs; D002117:Calcitriol