A case of atypical mccunealbright syndrome with vaginal bleeding. Although a lot is known about mccune albright syndrome mas in children, issues arising specifically during adulthood are less well understood. Mccune albright syndrome mas is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia pfd, cafe aulait macules calm and underlying endocrinopathies. Women with mas are susceptible to developing large ovarian cysts and irregular vaginal bleeding. The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, g sa, and the fact these mutations arises sporadically, often times early in development, prior to. It is a mosaic disease arising from somatic activating mutations in gnas, which encodes the alphasubunit of the gs g proteincoupled receptor. Mccunealbright syndrome mas is a rare noninherited disorder characterized by the clinical triad of precocious puberty, cafeaulait skin spots, and fibrous dysplasia fd of bone. It was first described in 1937 by american pediatrician donovan james mccune and american. Mccune albright syndrome mas is a rare noninherited disorder characterized by the clinical triad of precocious puberty, cafeaulait skin spots, and fibrous dysplasia fd of bone. This disease is the most commonly inherited neurological disorder affecting about one in 2,500 people. Mccunealbright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. The diagnosis is considered confirmed when at least two of the cardinal features are present. These mutations lead to constitutive receptor activation.
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