Albinism (patient information): Difference between revisions
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{{Alcoholic hepatitis (patient information)}} | |||
{{ CMG}}; {{AE}} {{S.M}} | |||
==Overview== | |||
[[Albinism]] is an inherited disease which is caused by defective [[melanin]] production. Melanin gives color to [[skin]], [[hair]], and [[eyes]]. | |||
{{ | ==What are the symptoms of Albinism?== | ||
Symptoms of [[albinism]] include both dermal and eye features: | |||
* White or hypo-pigmented [[hair]] | |||
* White or hypo-pigmented [[eyelashes]] | |||
* White or hypo-pigmented [[skin]] | |||
* [[Photophobia]] | |||
* Decreased [[visual acuity]] | |||
* Pink or hypopigmented [[eyes]] | |||
* [[Strabismus]] | |||
==What causes Albinism?== | |||
[[Albinism]] is caused by [[mutation]] of [[genes]] that lead to defect in [[melanin]] synthesis. This [[mutation]] is inherited through the family. | |||
===Types of albinism=== | |||
Types of [[albinism]] include: | |||
* [[Oculocutaneous albinism]]; causes white or [[hypopigmentation]] of [[skin]], [[hair]], and [[eyes]]. The [[hypopigmentaion]] is usually seen when patients are compared to other family members | |||
* [[Hermansky-Pudlak syndrome]]; causes white or [[hypopigmentation]] of [[skin]], [[hair]], and [[eyes]] along with [[bleeding]] and [[lung]] problems | |||
* [[Chediak-Higashi syndrome]]; Causes white or [[hypopigmentation]] of [[skin]], [[hair]], and [[eyes]]. It increases susceptibility to [[infection]] along with [[nerve]] defects and [[bleeding]] problems | |||
* [[Ocular albinism]]; causes [[hypopigmentation]] of [[eyes]], [[nystagmus]], [[strabismus]], decreased [[visual acuity]], and [[photophobia]] | |||
==Who is at highest risk?== | |||
Individuals with familial history of [[albinism]] are at risk of [[albinism]] | |||
==When to seek urgent medical care?== | |||
* If you notice [[skin]] changes, they might be possible developing [[skin cancer]] | |||
* If you notice a change in your vision or light sensitivity | |||
==Diagnosis== | |||
[[Genetic testing]] is the most definite test for diagnosis. Additionally, [[ophthalmology]] examination is considered for evaluation of [[eye]] features. | |||
==Treatment options== | |||
The treatment options include: | |||
* Avoidance of prolonged sun exposure | |||
* Sunglasses with [[UV]] protection for [[light sensitivity]] | |||
* Upon sun exposure, application of [[sunscreen]] with at least SPF 30+ every 2 hours is recommended | |||
* Glasses to correct vision problems and eye position | |||
* [[Eye]] [[muscle]] [[surgery]] for severe [[strabismus]] | |||
===Diseases with similar symptoms=== | |||
* [[Chédiak-Higashi syndrome]] | |||
* [[Tuberous sclerosis]] | |||
* [[Hermansky-Pudlak syndrome]] | |||
* [[Waardenburg syndrome]] | |||
==Where to find medical care for Albinism?== | |||
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|albinism}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Albinism] | |||
==Prevention of Albinism== | |||
People with a family history of [[albinism]] should consider genetic counseling before [[pregnancy]] | |||
==What to expect (Outlook/Prognosis)?== | |||
Patient with [[albinism]] has normal [[life expectancy]] | |||
==Possible complications== | |||
* Decreased [[visual acuity]] | |||
* [[Skin cancer]] | |||
==References== | |||
{{Reflist|2}} | |||
{{WS}} | |||
{{WH}} | |||
[[Category:Endocrinology]] | |||
[[Category:Dermatology]] | |||
Latest revision as of 03:22, 24 August 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Albinism is an inherited disease which is caused by defective melanin production. Melanin gives color to skin, hair, and eyes.
What are the symptoms of Albinism?
Symptoms of albinism include both dermal and eye features:
- White or hypo-pigmented hair
- White or hypo-pigmented eyelashes
- White or hypo-pigmented skin
- Photophobia
- Decreased visual acuity
- Pink or hypopigmented eyes
- Strabismus
What causes Albinism?
Albinism is caused by mutation of genes that lead to defect in melanin synthesis. This mutation is inherited through the family.
Types of albinism
Types of albinism include:
- Oculocutaneous albinism; causes white or hypopigmentation of skin, hair, and eyes. The hypopigmentaion is usually seen when patients are compared to other family members
- Hermansky-Pudlak syndrome; causes white or hypopigmentation of skin, hair, and eyes along with bleeding and lung problems
- Chediak-Higashi syndrome; Causes white or hypopigmentation of skin, hair, and eyes. It increases susceptibility to infection along with nerve defects and bleeding problems
- Ocular albinism; causes hypopigmentation of eyes, nystagmus, strabismus, decreased visual acuity, and photophobia
Who is at highest risk?
Individuals with familial history of albinism are at risk of albinism
When to seek urgent medical care?
- If you notice skin changes, they might be possible developing skin cancer
- If you notice a change in your vision or light sensitivity
Diagnosis
Genetic testing is the most definite test for diagnosis. Additionally, ophthalmology examination is considered for evaluation of eye features.
Treatment options
The treatment options include:
- Avoidance of prolonged sun exposure
- Sunglasses with UV protection for light sensitivity
- Upon sun exposure, application of sunscreen with at least SPF 30+ every 2 hours is recommended
- Glasses to correct vision problems and eye position
- Eye muscle surgery for severe strabismus
Diseases with similar symptoms
Where to find medical care for Albinism?
Directions to Hospitals Treating Albinism
Prevention of Albinism
People with a family history of albinism should consider genetic counseling before pregnancy
What to expect (Outlook/Prognosis)?
Patient with albinism has normal life expectancy
Possible complications
- Decreased visual acuity
- Skin cancer