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Albinism in humans
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{{short description|Condition characterized by absence of pigment}} {{use dmy dates|date=June 2022}} {{Infobox medical condition (new) | name = Albinism | image = Albinisitic man portrait.jpg | caption = Young African boy with albinism | field = [[Dermatology]] | synonyms = Achromia, achromasia, achromatosis | pronounce = albino ({{IPAc-en|uk|æ|l|ˈ|b|iː|n|oʊ}},<ref>{{Cite web |date=2017 |title=albino |url=http://dictionary.reference.com/browse/albino |access-date=10 November 2017 |website=Random House Dictionary |via=Dictionary.Reference.com}}</ref> or {{IPAc-en|us|æ|l|ˈ|b|aɪ|n|oʊ}})<ref>{{Cite web |date=2017 |title=American Pronunciation of ''albino'' |url=https://www.macmillandictionary.com/pronunciation/american/albino |access-date=10 November 2017 |website=Macmillan Dictionary}}</ref> | symptoms = Lack of skin pigmentation, white hair, [[red eyes]], | complications = [[Photophobia]], vulnerability to [[sunburn]], [[skin cancer]]s, | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | }} <!-- Definition and symptoms --> [[Albinism]] is a [[congenital condition]] characterized in humans by the partial or complete absence of [[Biological pigment|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. In rare cases such as [[Chédiak–Higashi syndrome]], albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells, leading to increased susceptibility to infection.<ref>{{Cite journal |last=Kaplan |first=J. |last2=De Domenico |first2=I. |last3=Ward |first3=D. M. |date=2008 |title=Chediak-Higashi syndrome |journal=Current Opinion in Hematology |volume=15 |issue=1 |pages=22–29 |doi=10.1097/MOH.0b013e3282f2bcce |pmid=18043242 |s2cid=43243529}}</ref> <!-- Cause --> Albinism results from inheritance of [[Dominance (genetics)|recessive gene]] [[allele]]s and is known to affect all [[vertebrate]]s, including [[human]]s. It is due to absence or defect of [[tyrosinase]], a copper-containing enzyme involved in the production of [[melanin]]. Unlike humans, other animals have multiple [[Biological pigments|pigments]] and for these [[Albinism in biology|albinism]] is considered to be a hereditary condition characterised by the absence of melanin, in particular in the eyes, skin, hair, scales, feathers or cuticle.<ref>{{Cite encyclopedia |title=Albinism |encyclopedia=Encyclopædia Britannica |url=http://www.britannica.com/EBchecked/topic/12993/albinism |access-date=27 January 2015}}</ref> While an organism with complete absence of melanin is called an albino, an organism with only a diminished amount of melanin is described as [[Leucism|leucistic]] or albinoid.<ref name="Tietz">{{Cite journal |last=Tietz |first=W. |date=1963 |title=A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance |journal=American Journal of Human Genetics |volume=15 |issue=3 |pages=259–264 |pmc=1932384 |pmid=13985019}}</ref> The term is from the [[Latin]] ''albus'', "white".
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