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This is an accepted version of this page This is the latest accepted revision, reviewed on 11 February 2025. "Skin pigmentation" redirects here. For animal skin pigmentation, see Biological pigment. Extended Coloured family from South Africa showing some spectrum of human skin coloration Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among ...
It results in blonde hair and the eventual development of skin pigmentation during infancy, though at birth is difficult to distinguish from other types. [7] [11] About 1 in 40,000 people have some form of OCA1. [12] OCA2: 203200: OCA2: The most common type of albinism is caused by mutation of the P gene.
Genetic testing is the most specific diagnostic test for harlequin ichthyosis. This test reveals a loss of function mutation on the ABCA12 gene. [18] A skin biopsy may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white, and hard skin layer.
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
Harlequin color change is a cutaneous condition seen in newborn babies characterized by momentary red color changes of half the child, sharply demarcated at the body's midline. This transient change occurs in approximately 10% of healthy newborns. [ 1 ]
Color Data, a database containing aggregated genetic and clinical information from 50,000 individuals who took a Color test, [26] helps researchers and scientists identify genotype-phenotype correlations and novel variants for functional analysis, as well as enables data-driven drug discovery and development. It is the largest public database ...
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Leucism (/ ˈ l uː s ɪ z əm,-k ɪ z-/) [2] [3] [4] is a wide variety of conditions that result in partial loss of pigmentation in an animal—causing white, pale, or patchy coloration of the skin, hair, feathers, scales, or cuticles, but not the eyes. [4] It is occasionally spelled leukism.