Polyostotic Fibrous Dysplasia (Subscribe)

This condition was first described by McCune and Albright in 1936 and 1937 respectively. They described the classic triad of irregular skin pigmentation, bony abnormalities, and sexual precocity. DrGreene

Author: Gabriel I Uwaifo, MBBS, Clinical and Research Attending, MedStar Clinical Research Center, Assistant Professor of Medicine and Endocrinology, The MedStar Research Institute and the Washington Hospital Center Coauthor(s): Nicholas J Sarlis, MBBS, MD, PhD, FACP, Medical Director, Department of Oncology-US Medical Affairs Department, Sanofi-Aventis Pharmaceuticals Background McCune-Albright syndrome (MAS) is defined as the association of polyostotic fibrous dysplasia (PFD) (see Image ...

Alternative titles; symbols ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA; PFD; POFD this phenotype is associated with mutations in the GNAS1 gene (139320). The McCune-Albright syndrome, usually caused by mosaicism for a mutation in the GNAS1 gene, is characterized by polyostotic fibrous dysplasia, pigment patches of the skin and endocrinologic abnormalities, including precocious puberty, thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080). CLINICAL FEATURES ...

Synonyms MAS Albright Syndrome Osteitis Fibrosa Disseminata Polyostotic, Fibrous Dysplasia PFD Precocious Puberty with Polyostotic Fibrosis and Abnormal Pigmentation POFD General Discussion McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged ...

Osteitis Fibrosa Disseminata: "A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). (From Dorland, 28th ed)" 2 synonyms or equivalents were found. Polyostotic fibrous dysplasia aka/or McCune-Albright syndrome may cause or feature ...

Definition of Polyostotic fibrous dysplasia Polyostotic fibrous dysplasia: A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called McCune-Albright syndrome or the Albright syndrome. In the syndrome, there is bone disease with fractures and deformity of the legs, arms and skull; pigment patches of the skin; and endocrine (hormonal) disease with early puberty (early menstrual bleeding, development of breasts and pubic hair) and an ...

McCune-Albright syndrome (polyostotic fibrous dysplasia), described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty. It is suspected when two of the three following features are present: (autonomous) endocrine hyperfunction such as precocious puberty Fibrous dysplasia Café-au-lait spots Within the syndrome there are bone fractures and deformity of the legs, arms and skull, ...

Polyostotic Fibrous Dysplasia, The Alfred I. duPont Institute