User:Mr. Ibrahem/Albinism in humans
Medical condition / From Wikipedia, the free encyclopedia
Albinism is present at birth and characterized by the complete or partial absence of pigment in the skin, hair, and eyes.[3] It is associated with vision problems including decreased visual acuity, light sensitivity, binocular vision deficits, refractive errors, and nystagmus.[3] People are also more susceptibility to sunburns and skin cancer.[3]
Albinism | |
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Other names | Achromia, achromasia, achromatosis |
A boy with albinism | |
Pronunciation |
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Specialty | Dermatology |
Symptoms | Pale skin, eyes, and hair[3] |
Complications | Vision problems, sunburns, skin cancer[3] |
Usual onset | Present at birth[3] |
Types | OCA1 to 7, OA1, syndromic[3] |
Causes | Genetic mutation[3] |
Diagnostic method | Based on an examination, genetic testing[3] |
Differential diagnosis | Piebaldism, vitiligo, phenylketonuria, homocystinuria, kwashiorkor[3] |
Treatment | Sun protection, screening for skin cancer, frequent eye exams[3] |
Prognosis | Life expectancy may be similar to general population[3] |
Frequency | 1 in 20,000[3] |
Albinism is due to genetic mutations that result in either a decreased ability to make or distribute melanin.[3] At least 7 different autosomal recessive mutations can result in albinism and the condition is also be present as part of a number of syndromes including Hermansky–Pudlak and Chédiak–Higashi syndrome.[3][4] Diagnosis is generally made based on an examination and may be supported by genetic testing.[3]
Treatment involves life long sun protection such as the use of protective clothing, sunscreen, dark glasses, and avoiding UV light.[3] Screening for skin cancer is recommended at least yearly, with the understanding that melanomas will be pink not dark.[3] Frequent eye exams are also recommended.[3] About 1 in 20,000 people are affected.[3] Stigma exists in many areas of the world.[3] The term is from the Latin albus meaning "white".[3]