User:Mr. Ibrahem/Albinism in humans
| Albinism | |
|---|---|
| Other names | Achromia, achromasia, achromatosis |
 | |
| A boy with albinism | |
| Pronunciation |
|
| 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 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 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]
References[edit]
- ^ "albino". Random House Dictionary. 2017. Archived from the original on 4 March 2016. Retrieved 10 November 2017 – via Dictionary.Reference.com.
- ^ "American Pronunciation of albino". Macmillan Dictionary. 2017. Archived from the original on 11 November 2017. Retrieved 10 November 2017.
- ^ a b c d e f g h i j k l m n o p q r s t u v Federico, JR; Krishnamurthy, K (January 2020). "Albinism". PMID 30085560.
{{cite journal}}: Cite journal requires|journal=(help) - ^ Kaplan, J.; De Domenico, I.; Ward, D. M. (2008). "Chediak-Higashi syndrome". Current Opinion in Hematology. 15 (1): 22–29. doi:10.1097/MOH.0b013e3282f2bcce. PMID 18043242. S2CID 43243529.