McCune-Albright syndrome

McCune-Albright syndrome belongs to rare genetic diseases. Albright initially described the syndrome in 1937 as the triad and McCune extended it to include manifestations of hyperthyroidism. Other signs were attributed to the clinical picture later on and more signs continue to be revealed at present. The syndrome is a result of sporadic early-onset postzygotic somatic mutation of the GNAS1 gene and is characterized by the triad of bone dysplasia, skin hyperpigmentation and various endocrine hyperfunctions. The extent and degree of involvement of affected tissues are heterogeneous due to mosaicism for the genetic mutation and thus every patient has a particular phenotype. The disease is the subject of extensive research and new pathogenetic mechanisms are being elucidated leading to new diagnostic and therapeutic choices. Patients with McCune- -Albright syndrome ultimately grow-up but burden of the disease unfortunately continues to reduce their quality of life. For dominating bone and endocrine involvement they are managed primarily by endocrinologists, however rheumatologists are increasingly interested in recognising the McCune-Albright syndrome. Skeletal deformities, fractures and hyperestrogenism as well as growth hor­mone hyperproduction are some of the most frequent challenges in management.