McCune–Albright syndrome
| McCune-Albright syndrome | |
|---|---|
| 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. | |
| Specialty | Medical genetics |
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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]
It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright.[2][3][4]
- ^ Boyce, Alison M.; Collins, Michael T. (1993). "Fibrous Dysplasia/McCune-Albright Syndrome". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 25719192.
- ^ synd/1844 at Whonamedit?
- ^ McCune, Donovan J.; Bruch, Hilde (1937). "Progress in Pediatrics: Osteodystrophia Fibrosa". Archives of Pediatrics & Adolescent Medicine. 54 (4): 806. doi:10.1001/archpedi.1937.01980040110009.
- ^ Albright F, Butler AM, Hampton AO, Smith P (1937). "Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases". N. Engl. J. Med. 216 (17): 727–746. doi:10.1056/NEJM193704292161701.