

McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by the
displacement of normal bone tissue with areas of abnormal fibrous growth (polyostotic fibrous
dysplasia). Such fibrous bony areas (lesions) may develop in many bones of the body, causing
impaired mobility, pain, and/or, in some cases, hearing and/or visual impairment. MAS is also
characterized by patches of abnormal skin pigmentation (cafe-au-lait spots) and/or abnormalities of certain
hormone-producing glands that help to regulate the rate of growth, sexual development, and certain
metabolic functions (multiple endocrine dysfunction). For example, in many affected individuals,
endocrine dysfunction may result in premature development of secondary sexual characteristics
(precocious puberty). McCune-Albright Syndrome is due to a genetic change (mutation) that
occurs randomly, for no apparent reason (sporadic). In individuals with the disorder, this sporadic
genetic mutation is present in only some of the body's cells (mosaic pattern). The symptoms and
physical characteristics associated with the disorder may vary greatly from case to case, depending
upon the specific body cells and tissues that are affected by the genetic mutation. Because this
mutation occurs after fertilization (postzygotic somatic mutation), it is not inherited from the parents.
The McCune-Albright Syndrome is named for the two physicians who described it
over 50 years ago.
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