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McCune–Albright syndrome is suspected when two or more of the following features are present: Fibrous dysplasia (specifically, polyostotic fibrous dysplasia ) [ citation needed ] Hyperpigmented skin lesions with characteristic features, including jagged "coast of Maine" borders and tendency occur along the midline of the body.
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.
Fibrous dysplasia is a very rare [2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture , deformity, functional impairment, pain, and the impingement of nerves. [ 3 ]
They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. [2] These spots are typically permanent and may grow or increase in number over time. [3] Café au lait spots are often harmless but may be associated with syndromes such as neurofibromatosis type 1 and McCune–Albright syndrome. [3]
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 .
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. [2] Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. [3] McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4]
Fuller Albright (January 12, 1900 – December 8, 1969) was an American endocrinologist who made numerous contributions to his field, especially to the area of calcium metabolism. [1] Albright made great strides and contributions to the understanding of disorders associated with calcium and phosphate abnormalities in the body.