Albinism (patient information): Difference between revisions

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Latest revision as of 03:22, 24 August 2021

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

References

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-{{SI}}
+__NOTOC__
+{{Alcoholic hepatitis (patient information)}}
+{{ CMG}}; {{AE}} {{S.M}}
-'''Editor-in-Chief:'''Katherine Ogando
+==Overview==
+[[Albinism]] is an inherited disease which is caused by defective [[melanin]] production. Melanin gives color to [[skin]], [[hair]], and [[eyes]].
-{{EJ}}
+==What are the symptoms of Albinism?==
+Symptoms of [[albinism]] include both dermal and eye features:
-'''For the WikiDoc page for this topic, click [[Albinism|here]]'''
+* 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 is albinism?==
+==What causes Albinism?==
-Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.
+[[Albinism]] is caused by [[mutation]] of [[genes]] that lead to defect in [[melanin]] synthesis. This [[mutation]] is inherited through the family.
-==What are the symptoms of albinism?==
+===Types of albinism===
-A person with albinism will have one of the following symptoms:
+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]]
-* Absence of color in the hair, skin, or iris of the eye
+==Who is at highest risk?==
-* Lighter-than-normal skin and hair
+Individuals with familial history of [[albinism]] are at risk of [[albinism]]
-* Patchy, missing skin color
-Many forms of albinism are associated with the following symptoms:
+==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
-* Crossed eyes (strabismus)
+==Diagnosis==
-* Light sensitivity (photophobia)
+[[Genetic testing]] is the most definite test for diagnosis. Additionally, [[ophthalmology]] examination is considered for evaluation of [[eye]] features.
-* Rapid eye movements (nystagmus)
-* Vision problems, or functional blindness
-==What are the causes of albinism?==
-Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.
-The defects may be passed down through families.
-There are two main types of albinism:
-* Type 1 albinism is caused by defects that affect production of the pigment, melanin.
-* Type 2 albinism is due to a defect in the "P" gene. People with this type have slight coloring at birth.
-The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color, as well as vision problems.
-Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye colors are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).
-Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.
-Other complex diseases may lead to loss of coloring in only a certain area (localized albinism). These conditions include:
-* Chediak-Higashi syndrome (lack of coloring all over the skin, but not complete)
-* Tuberous sclerosis (small areas without skin coloring )
-* Waardenburg syndrome (often a lock of hair that grows on the forehead, or no coloring in one or both irises)
-==Who is at risk for albinism?==
-Since albinism is an inherited condition, you are at an increased risk if you have a family history of albinism.<ref>http://www.healthline.com/adamcontent/albinism#causesincidenceandriskfactors</ref>
-==How to know you have albinism?==
-Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease.
-Your doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist should perform a electroretinogram test, which can reveal vision problems related to albinism. A visual evoked potentials test can be very useful when the diagnosis is uncertain.
-==When to seek medical care==
-Call your health care provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of skin cancer.
 ==Treatment options==
-The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.
+The treatment options include:
-Treatment involves protecting the skin and eyes from the sun:
-* Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
-* Sunscreen should have a high sun protection factor (SPF).
-* Sunglasses (UV protected) may relieve light sensitivity.
-Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).
+* 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==
+===Diseases with similar symptoms===
-* Chediak-Higashi syndrome
+* [[Chédiak-Higashi syndrome]]
-* Tuberious sclerosis
+* [[Tuberous sclerosis]]
-* Waardenburg syndrome
+* [[Hermansky-Pudlak syndrome]]
+* [[Waardenburg syndrome]]
-==Where to find medical care for albinism==
+==Where to find medical care for Albinism?==
-[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|albinism}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating albinism]
+[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|albinism}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Albinism]
-==Prevention of albinism==
+==Prevention of Albinism==
-Because albinism is inherited, genetic counseling is important. People with a family history of albinism or hypopigmentation should consider genetic counseling.
+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]]
-==What to expect (Outlook/Prognosis)==
+==Possible complications==
-Albinism does not usually affect lifespan. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems.
+* Decreased [[visual acuity]]
+* [[Skin cancer]]
-People with albinism may be limited in their activities because they can't tolerate the sun.
-==Sources==
-[http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm|Medline Plus: Albinism]
 ==References==
-{{reflist|2}}
+{{Reflist|2}}
+{{WS}}
+{{WH}}
+[[Category:Endocrinology]]
-{{SIB}}
+[[Category:Dermatology]]
-{{WH}}
-{{WS}}
-[[Category:Patient Information]]