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McCune–Albright Syndrome
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. It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright. Signs and symptoms McCune–Albright syndrome is suspected when two or more of the following features are present: * Fibrous dysplasia * Hyperpigmented skin lesions with characteristic features, including jagged "coast of Maine" borders and tendency occur along the midline of the body. These lesions are historically termed café au lait macules, however the term "cafe-au-lait" only describes their appearance on lighter-skinned individuals. * Hyperfunctioning endocrine disease Patients may have one or many of these features, which may occur in any combination. As such, the clinical presentation of patients w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lines Of Blaschko
Blaschko's lines, also called the lines of Blaschko, are lines of normal cell development in the skin. These lines are only visible in those with a Mosaic (genetics), mosaic skin condition or in Chimera (genetics), chimeras where different cell lines contain different genes. These lines may express different amounts of melanin, or become visible due to a differing susceptibility to disease. In such individuals, they can become apparent as whorls, patches, streaks or lines in a linear or segmental distribution over the skin. They follow a ''V'' shape over the back, ''S''-shaped whirls over the chest and sides, and wavy shapes on the head. Not all mosaic skin conditions follow Blascko's lines. The lines are believed to trace the migration of embryonic cells. They do not correspond to nervous system, nervous, muscular system, muscular, or lymphatic system, lymphatic systems. The lines are not unique to humans and can be observed in other non-human animals with mosaicism. Alfred Bl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |