Volume : 4, Issue : 1, January - 2015

McCune-Albright syndrome (MAS) : A case report

Dr. Rajani Valasapalli, Dr. Rajyalakshmi. R, Dr. B. V. Rama Reddy

Abstract :

<p>McCune&ndash;Alight syndrome (MAS) (1,2) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The< /> classical triad consists of polyostotic fious dysplasia (FD), skin hyperpigmentation (caf&eacute;&ndash;au&ndash;lait spots), and endocrine< /> dysfunction, frequently seen in females as precocious puberty. Patients with MAS display mosaicism of activating< /> somatic mutations of the alpha&ndash;subunit of Gs. FD, mostly polyostotic, causes fractures needing surgical and orthopedic treatment. Since previous< /> studies have suggested the overall prognosis of patients with McCune&ndash;Alight syndrome to be non&ndash;fatal, recent data have drawn our attention< /> to non&ndash;endocrine affections, including hepatobiliary dysfunction and cardiac disease, which are probably an important risk factor for early< /> death. In summary, the clinical picture in MAS is related to its mosaic nature, i.e. any cell, tissue and organ in any site of the body could be affected< /> to varying degrees, ranging from one or two mild clinical signs with excellent long&ndash;term prognosis to a severe life&ndash;threatening multiorgan disease.< /> We describe a male patient with MAS having multiple caf&eacute;&ndash;au&ndash;lait macules and deforming polyostotic fious dysplasia involving skull and femur< /> with endocrine abnormality</p>