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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]
Moreover, he also worked on identifying a gain-of-function mutation in the GNAS gene as the basis for constitutive activation of adenylyl cyclase in the McCune-Albright syndrome and confirmed that the unusual distribution of the endocrine, cutaneous, and skeletal lesions in the syndrome is the result of a postzygotic mosaicism. [9]
Café au lait spots are often harmless but may be associated with syndromes such as neurofibromatosis type 1 and McCune–Albright syndrome. [3] Café au lait lesions with rough borders ("coast of Maine") may be seen in McCune–Albright syndrome.
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine cancer syndrome characterized primarily by tumors of the parathyroid glands (95% of cases), endocrine gastroenteropancreatic (GEP) tract (30–80% of cases), and anterior pituitary (15–90% of cases). [19]
Albright hereditary osteodystrophy; pseudohypoparathyroidism type Ia and Ib; pseudopseudohypoparathyroidism; McCune–Albright syndrome; Myxoma [14] Mutations in this gene also result in progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [15]
Donovan James McCune (June 24, 1902 – April 11, 1976) was an American pediatrician who conducted pioneering research on McCune–Albright syndrome. [1] He was also a collector of rare books, including many incunabula , and a devotee of letterpress printing .
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, [1] characteristic skeletal abnormalities, and, in some instances, problems with vision and hearing.