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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 G s heterotrimeric G protein .
The disorder bears the name of Fuller Albright, who characterized it in 1942. [12] He was also responsible for naming it "Sebright bantam syndrome," after the Sebright bantam chicken, which demonstrates an analogous hormone insensitivity. Much less commonly, the term Martin-Albright syndrome is used, this refers to Eric Martin. [13]
Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. [23]
Having two of the three listed clinical criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as Addison's disease and McCune–Albright syndrome, and these should be included in the differential diagnosis. 90–100% of patients with a clinical diagnosis of PJS have a mutation in the STK11/LKB1 gene.
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. [3] It was first described in 2007 and is often mistaken for neurofibromatosis type I . It is caused by mutations in the SPRED1 gene.
McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4] When polyostotic fibrous dysplasia manifests in the long bones, limping results; when it manifests in the face, asymmetric growth of the face can result. [3] One treatment that has been used is bisphosphonates. [5]
Jackie Galgey, 45, shares in a personal essay her experience with trigeminal neuralgia, also called the suicide disease, which caused her one-sided facial pain.
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.