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Medical Therapy of Children With Fibrous Dysplasia
Author(s) -
Glorieux Francis H,
Rauch Frank
Publication year - 2006
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1359/jbmr.06s221
Subject(s) - fibrous dysplasia , precocious puberty , missense mutation , polyostotic fibrous dysplasia , hypophosphatemia , pathology , dysplasia , biology , endocrinology , medicine , mutation , hormone , genetics , gene
FIBROUS DYSPLASIA (FD) is a sporadic developmental disorder characterized by expanding fibrous lesions throughout the skeleton. On X-rays, the dysplastic lesions frequently have a lytic or cystic appearance. At the tissue level, the lesions consist of abnormal fibrous tissue in the marrow space intertwined with poorly defined and irregular trabeculae reminiscent of woven bone. Bone scans usually show increased radiolabel uptake in the affected areas. Biochemical indices of bone turnover are usually high (particularly serum tissue nonspecific alkaline phosphatase activity) and correlate with the extent of the lesions. Hypophosphatemia is a common finding, probably caused by a circulating phosphaturic factor. The sites involved are typically the long bones and the skull. They are often unilateral. In some cases, a single lesion is present (monostotic form). Polyostotic (more than one site) forms are the most frequent, with, in rare instances, FD involving the whole skeleton (panostotic form). When bone lesions are associated with various endocrinopathies (mostly precocious puberty) and skin lesions (cafe-au-lait-spots), it is referred to as the McCuneAlbright syndrome (OMIM #174800).