McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, sk...

INTRODUCTION Involvement of the spinal column in either monostotic or polyostotic form is rare, with fewer than thirty-five cases discussed in the literature. Most of the cases of polyostotic fibrous dysplasia of spine have involvement of the appendicular skeleton. CASE REPORT We report a case of a 74-year-old Irish man with a two month history of back pain. Investigations revealed a diagnosi...

Monostotic fibrous dysplasia of the vertebra is a rare entity. A case of a 53-year-old lady who presented with an 8 months history of pain in the thoracic spine region with paraparesis is discussed. She had a history of papillary thyroid carcinoma and had undergone total thyroidectomy one year prior to her current problem. Magnetic resonance imaging revealed isolated osteolytic lesion over the ...

BACKGROUND Lesions of fibrous dysplasia involving the spine and scoliosis are thought to be uncommon entities in patients with polyostotic fibrous dysplasia and McCune-Albright syndrome. By examining bone scans of a relatively large cohort of patients with these disorders, we sought to determine the prevalence of spinal involvement and any association with scoliosis. METHODS Sixty-two patient...

Methods We present a 14y old girl with polyostotic fibrous dysplasia (right humerus, femur, tibia, skull), precocious puberty and café au lait skin spots, diagnosed as MAS with a confirmed heterozygous c.601C>T mutation of the GNAS1 gene. Due to initial bone pain and continuously increasing bone turnover, the patient was treated with iv bisphosphonates for 4 years. We used pQCT to estimate bone...

Fibrous dysplasia (FD) is a benign skeletal disorder that can affect one bone (monostotic form) or multiple bones (polyostotic form). It is a non-inherited bone disease, in which abnormal differentiation of osteoblasts leads to replacement of normal marrow and cancellous bone by immature bone with fibrous stroma. It is often asymptomatic and incidentally detected on radiographs. We report this ...

External auditory canal (EAC) stenosis is commonly seen in patients with fibrous dysplasia of the temporal bone. Postoperative canal restenosis is more likely to be encountered after initial surgical management. We present a case of monostotic fibrous dysplasia of the temporal bone with EAC invasion in a 37-year-old man who presented with recurrent canal stenosis and resultant conductive hearin...

Fibrous dysplasia of bone (FD) is a rare congenital disease, due to somatic mutation GNAS. This results in defect osteoblast differentiation and mineralization also an increase resorption by large active osteoclasts. Bone pain present half patients the main determinant quality life with FD. Bisphosphonates are known reduce risk fracture metastases or Paget's disease. may have similar effects In...