a 29- year old female with bone pain and history of precocious puberty was referred for bone scintigraphy. on physical examination café au lait macular spots were noted on her neck, buttocks and left leg. bone scan showed multiple areas of intense increased activity which was in favour of polyostotic fibrous dysplasia. considering the presence of polyostotic fibrous dysplasia, precocious pubert...

An 18-year-old man was referred to the authors' institution's thoracic cancer specialists for further consultation after abnormal findings were seen on chest radiograph.

craniofacial fi brous dysplasia (fd) is one of three types of fd which can affect the craniofacial complex. it is the proliferation of cellular fi brous connective tissue intermixed with irregular bony trabecules. it is a developmental tumor-like condition that is characterized by replacement of normal bone. the purpose of this report is to present a rare case of craniofacial polyostotic fd tha...

Fibrous dysplasia affects principally the bone, it might also comprise extra skeletal anomalies; whereby the bone is replaced by a dysplastic fibrous tissue. It is classified according to the number of affected bones, and its association to endocrine alterations in: monostotic, polyostotic forms and Albright's disease. A congenital etiology is suggested. Pathologic fractures are the most freque...

A 26-year-old female patient suffered from intermittent back pain for 4 years and a fall from bicycle aggravated the symptom. Physical and imaging examinations revealed the diagnosis of polyostotic fibrous dysplasia in McCune-Albright syndrome. No neurological symptom was found. A vertebral fracture was seen at the eighth thoracic body. Percutaneous kyphoplasty was performed at the fractured le...

BACKGROUND Polyostotic fibrous dysplasia is a skeletal disease that results from somatic activating mutations in the gene GNAS in skeletal stem cells, leading to proliferation of immature osteogenic cells with replacement of normal marrow and bone with fibro-osseous tissue. Lesions may cause bone deformity or fracture. In the surgical care of polyostotic fibrous dysplasia, the role of grafting ...

Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account for both sporadic and familial forms of Paget's disease of bone (PDB). We originally described a methionine-->valine substitution at codon 404 (M404V) of exon 8, in the ubiquitin protein-binding domain of p62/SQSTM1 gene in an Italian PDB patient. The collection of data from the patient's pedigree provided evidence for a familial for...

Objective Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design We retrospe...