Advances in Models of Fibrous Dysplasia/McCune-Albright Syndrome

McCune Albright Syndrome ( MAS ) - polyostotic fibrous dysplasia

Sinonasal disease in polyostotic fibrous dysplasia and McCune-Albright Syndrome.

OBJECTIVES/HYPOTHESIS To characterize the spectrum, symptoms, progression, and effects of endocrine dysfunction on sinonasal disease in polyostotic fibrous dysplasia (PFD) and McCune-Albright Syndrome (MAS). STUDY DESIGN Retrospective review. METHODS A prospectively followed cohort of subjects with PFD/MAS underwent a comprehensive evaluation that included otolaryngologic and endocrine eval...

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia

Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of t...

McCune-Albright syndrome: Report of a case

  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...

Polyostotic Fibrous Dysplasia With and Without McCune–Albright Syndrome—Clinical Features in a Nordic Pediatric Cohort

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...