| A rare syndrome that is classically defined by the clinical triad of fibrous dysplasia of bone, cafe-au-lait skin spots and precocious puberty. The disease can involve single or multiple skeletal sites and presents with a limp and/or pain and occasionally, a pathologic fracture. Scoliosis is common and may be progressive. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. The disease is rarely associated with malignancy however malignant transformation of fibrous dysplasia lesions occurs in probably less than 1% patients. |
