albinism
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Albinism

Albinism

Last Reviewed : 12/23/2020
Albinism

Albinism in humans (from the Latin albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. Unlike humans, other animals have multiple pigments and for these, 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.

Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. While an organism with complete absence of melanin is called an albino (UK /æl'bi?no?/,or US /æl'ba?no?/)an organism with only a diminished amount of melanin is described as leucistic or albinoid.

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.

The following websites are some of the best online resources that provide more information about Albinism. You will be taken to the respective websites by pressing on the links.

 

 

Basic Information:

http://www.healthline.com/health/albinism health line albinism

https://medlineplus.gov/ency/article/001479.htm medline plus albinism

http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935 mayo clinic albinism

http://www.nhs.uk/conditions/albinism/pages/introduction.aspx nhs uk albinism

http://www.aapos.org/terms/conditions/12 american association of pediatric ophthlmology and strabismus albinism

http://kidshealth.org/en/kids/albinism.html kids health albinism

http://www.visionaustralia.org/eye-health/eye-conditions/albinism vision australia albinism

http://www.merckmanuals.com/professional/dermatologic-disorders/pigmentation-disorders/albinism merck manuals(professional version) albinism

http://www.aboutkidshealth.ca/en/healthaz/conditionsanddiseases/geneticdisorders/pages/albinism-and-genetics.aspx about kids health albinism and genetics

http://www.webmd.com/children/albinism-10894 web md oculocutaneous albinism

http://www.aao.org/eye-health/diseases/what-is-albinism american association of ophthalmology what is albinism?

 

 

Advanced Information:

http://www.medicalnewstoday.com/articles/245861.php medical news today albinism: symptoms, causes and diagnosis

https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism genetics home reference albinism

http://emedicine.medscape.com/article/1200472-overview medscape albinism

http://emedicine.medscape.com/article/1068184-overview medscape dermatologic manifestations of albinism

http://www.dermnetnz.org/colour/albinism.html dermnet nz albinism

http://www.ifpcs.org/albinism/ albinism

http://patient.info/doctor/albinism-pro patient albinism

http://rarediseases.org/rare-diseases/oculocutaneous-albinism/ national organisation for rare diseases oculo cutaneous albinism

 

 

Research:

http://www.jemds.com/data_pdf/afreen%20mahmodd.pdf u. narayan reddy, narsing rao, swathi chacham, afreen, jakkampudi naga sravani. “a rare case of griscelli’s syndrome with review of literature”. journal of evolution of medical and dental sciences 2014; vol. 3, issue 25,june 23; page: 6874-6877, doi: 10.14260/jemds/2014/2831

ortiz-basso t, vigo r, iacouzzi s, prémoli j. delleman (oculocerebrocutaneous) syndrome: case report. indian j ophthalmol [serial online] 2014 [cited 2016 jul 29];62:741-3. available from: http://www.ijo.in/text.asp?2014/62/6/741/136277

http://bmcdermatol.biomedcentral.com/articles/10.1186/1471-5945-12-5 skin cancers among albinos at a university teaching hospital in northwestern tanzania: a retrospective review of 64 cases by joseph b mabula et al., bmc dermatology201212:5 doi: 10.1186/1471-5945-12-5

http://www.ovpjournal.org/uploads/2/3/8/9/23898265/6.pdf troy a, appel s. low vision management for infantile nystagmus: a case study. optom vis perf 2014;3(1):50-56.

http://jmedicalcasereports.biomedcentral.com/articles/10.1186/1752-1947-1-176 complicated crohn's-like colitis, associated with hermansky-pudlak syndrome, treated with infliximab: a case report and brief review of the literature by george kouklakis et al., journal of medical case reports20071:176 doi: 10.1186/1752-1947-1-176

nambiar s, ramasubramanian s, swaminathan m. brown's syndrome with ocular albinism: case report of a rare presentation and literature review. oman j ophthalmol [serial online] 2015 [cited 2016 jul 29];8:117-9. available from: http://www.ojoonline.org/text.asp?2015/8/2/117/159264

http://www.hindawi.com/journals/bmri/2014/905472/ balu kamaraj and rituraj purohit, “mutational analysis of oculocutaneous albinism: a compact review,”biomed research international, vol. 2014, article id 905472, 10 pages, 2014. doi:10.1155/2014/905472

http://bmcpublichealth.biomedcentral.com/articles/10.1186/1471-2458-6-212 albinism in africa as a public health issue by esther s honget al., bmc public health20066:212 doi: 10.1186/1471-2458-6-212

http://wjso.biomedcentral.com/articles/10.1186/1477-7819-8-73 skin cancers in albinos in a teaching hospital in eastern nigeria - presentation and challenges of care by kingsley o opara and bernard c jiburum world journal of surgical oncology20108:73 doi: 10.1186/1477-7819-8-73

https://bmcpublichealth.biomedcentral.com/articles/10.1186/1471-2458-6-212 albinism in africa as a public health issue by esther s hong bmc public health20066:212 doi: 10.1186/1471-2458-6-212

 

 

Other Helpful Resources(support groups):

http://www.albinism.org/site/c.flkyidouihj4h/b.9194783/k.4163/national_organization_for_albinism_and_hypopigmentation.htm national organization for albinism and hypopigmentation

https://worldalbinism.org/ world albinism alliance

https://www.betterplace.org/en/organisations/10856-tanzania-albinism-society tanzania albinism society (tas)

 

 

Related Videos:

https://www.youtube.com/watch?v=cgzwwlls6bo what is albinism?

https://www.youtube.com/watch?v=3_1cnmcc3f0 genetic disorder - albinism

https://www.youtube.com/watch?v=ummdqlglypa albinism in nepal by snap productions

https://www.youtube.com/watch?v=iseaqzau6bi difference between albinism and vitiligo

https://www.youtube.com/watch?v=ykymqyz3iok albinism symptoms and treatments

https://www.youtube.com/watch?v=3dqkiye4t6g the sunflower: ips jitendramani tripathi | on 2nd world albinism awareness day | 13 june 2016

 

 

 

 

Presentations/Quiz/Newspaper articles:

http://www.aljazeera.com/indepth/features/2016/06/living-albinism-south-africa-160613062821350.html aljazeera living with albinism in south africa

http://www.scientificamerican.com/article/killing-albinos-tanzania-albinism/ the scientific american what causes albinism?

https://www.theguardian.com/global-development-professionals-network/2015/may/13/albinism-in-tanzania-slow-progress-in-combatting-violence-and-discrimination the guardian albinism in tanzania: slow progress in combatting violence and discrimination

http://www.cbsnews.com/news/malawi-albinos-hunted-and-murdered-for-their-limbs/ cbs news albino people are being hunted for their body parts

http://www.bbc.com/news/uk-36499577 bbc news living with albinism in the uk

http://www.bbc.com/news/disability-35967072 bbc news how frozen's elsa helped a little girl with albinism

http://www.huffingtonpost.in/entry/photographer-captures-the-beauty-of-people-with-albinism-in-democratic-republic-of-congo_us_5769d0a5e4b065534f482bd7 the huffington post photographer fights the stigma of albinism with stunning photo essay

http://www.dailymail.co.uk/femail/article-3268623/stunning-photo-series-featuring-people-albinism-puts-spotlight-beautiful-unique-features.html daily mail stunning photo series featuring people with albinism puts the spotlight on their beautiful and unique features
read more: http://www.dailymail.co.uk/femail/article-3268623/stunning-photo-series-featuring-people-albinism-puts-spotlight-beautiful-unique-features.html#ixzz4ft3xqzvr
 

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