McCune-Albright syndrome (MAS) : A case report
Journal Title: GJRA-Global Journal For Research Analysis - Year 2015, Vol 4, Issue 1
Abstract
McCune-Albright syndrome (MAS) (1,2) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The classical triad consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Patients with MAS display mosaicism of activating somatic mutations of the alpha-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-Albright syndrome to be non-fatal, recent data have drawn our attention to non-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-term prognosis to a severe life-threatening multiorgan disease. We describe a male patient with MAS having multiple café-au-lait macules and deforming polyostotic fibrous dysplasia involving skull and femur with endocrine abnormality.
Authors and Affiliations
Dr. Rajani valasapalli, Dr. Rajyalakshmi. R, Dr. B. V. Rama reddy
Keywords
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