McCune Albright Syndrome: Case Report and Review of Literature

Abstract

McCune-Albright syndrome is a rare disease de-fined by two of the three classical findings of polyostotic fibrous dysplasia, café au lait spots, and endocrine abnormalities, the most common being precocious puberty. This disease manifests in a mosaic pattern, signifying the sporadic de-velopment of disease during embryogenesis. Re-cent literature has characterized the pathogenesis of this disease, which results from a mutation in the GNAS gene that causes a persistent activa-tion of the G stimulatory-alpha subunit of the G protein cellular signaling complex. This causes a ‘gain of function’ in the cells affected. This paper describes three cases of McCune Albright’s syn-drome and reviews the recent literature regard-ing the pathogenesis of each of the classical find-ings.