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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.
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.
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]
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
The diagnosis is based on the presence of the Albright hereditary osteodystrophy pseudotype but without the PTH resistance. Blood tests including calcium, phosphate, and PTH will exclude other forms of pseudohypoparathyroidism. X-rays may reveal a short fourth metacarpal. Genetic testing can confirm the diagnosis by showing GNAS gene mutation. [1]
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 .
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