McCune–Albright syndrome
Mosaic genetic disorder affecting the bone, skin and endocrine systems / From Wikipedia, the free encyclopedia
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This article is about the genetic condition McCune–Albright syndrome. For the genetically-similar hypoparathyroid hormone type 1A condition, see Albright's hereditary osteodystrophy.
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the Gs heterotrimeric G protein.[1]
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McCune-Albright syndrome | |
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Skin hyperpigmentation. A) A typical lesion on the face, chest, and arm of a 5-year-old girl with McCune-Albright syndrome which demonstrates jagged "coast of Maine" borders, and the tendency for the lesions to both respect the midline and follow the developmental lines of Blaschko. B) Typical lesions that are often found on the nape of the neck and crease of the buttocks are shown (black arrows). C) A typical lesion on the lower back in an adult with McCune-Albright syndrome demonstrates jagged borders (white arrow). Note the spinal asymmetry due to fibrous dysplasia-related scoliosis. | |
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It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright.[2][3][4]