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Erschienen in: Journal of Children's Orthopaedics 1/2007

01.03.2007 | Current Concept Review

Current approach to fibrous dysplasia of bone and McCune–Albright syndrome

verfasst von: Arabella I. Leet, Michael T. Collins

Erschienen in: Journal of Children's Orthopaedics | Ausgabe 1/2007

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Abstract

Fibrous dysplasia (FD) of bone is an uncommon disease caused by sporadic, congenital mutations in the cAMP regulating protein, Gsα. It is an example of somatic mosaicism in which a wide spectrum of disease is possible. Widespread skeletal involvement is often associated with varying combinations of café-au-lait skin spots, and/or endocrine dysfunction (precocious puberty, renal phosphate wasting, hyperthyroidism, and/or growth hormone excess). Unrecognized and untreated endocrine dysfunction can exacerbate the skeletal disease. The diagnosis is usually established on clinical grounds on the basis of physical examination and typical radiographic appearance. Occasionally, gene testing of affected tissue may be helpful. The skeletal sites involved with disease are established at an early age, and the complications of fracture deformity are most pronounced in childhood. Bone pain in the absence of a fracture is more common in adults, but can also be present in children. Treatment with bisphosphonates is usually effective at relieving pain, but probably has no effect on the natural history of the disease. Scoliosis, which was previously thought to be an uncommon occurrence, has been shown to be common and progressive, and as such, warrants investigation and, when necessary, surgical treatment. The surgical management of FD remains challenging. Timing and technique remain controversial, but some consensus exists in that grafting materials (of any type) usually fail and should not be a central aspect of the surgical approach. Intramedullary devices are in general superior to side plates and screws. In extremely widespread disease with very early fracture and deformity, no surgical approach will affect final functional outcome. Efforts should be made for the initiation of international collaborative studies to better define optimal surgical approaches to the treatment of this challenging disease.
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Metadaten
Titel
Current approach to fibrous dysplasia of bone and McCune–Albright syndrome
verfasst von
Arabella I. Leet
Michael T. Collins
Publikationsdatum
01.03.2007
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Children's Orthopaedics / Ausgabe 1/2007
Print ISSN: 1863-2521
Elektronische ISSN: 1863-2548
DOI
https://doi.org/10.1007/s11832-007-0006-8

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