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

Template:WS Template:WH

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-'''For the WikiDoc page for this topic, click [[Albinism|here]]'''
+__NOTOC__
-{{SI}}
+{{Alcoholic hepatitis (patient information)}}
+{{ CMG}}; {{AE}} {{S.M}}
-{{CMG}}; '''Assistant Editor(s)-in-Chief:''' Katherine Ogando
 ==Overview==
-[[Albinism]] is a defect of [[melanin]] production that results in little or no color ([[pigment]]) in the skin, hair, and eyes.
+[[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?==
+==What are the symptoms of Albinism?==
-A person with [[albinism]] will have one of the following symptoms:
+Symptoms of [[albinism]] include both dermal and eye features:
-* Absence of color in the hair, skin, or [[iris]] of the eye
+* White or hypo-pigmented [[hair]]
-* Lighter-than-normal skin and hair
+* White or hypo-pigmented [[eyelashes]]
-* Patchy, missing skin color
+* White or hypo-pigmented [[skin]]
+* [[Photophobia]]
+* Decreased [[visual acuity]]
+* Pink or hypopigmented [[eyes]]
+* [[Strabismus]]
-Many forms of albinism are associated with the following symptoms:
+==What causes Albinism?==
+[[Albinism]] is caused by [[mutation]] of [[genes]] that lead to defect in [[melanin]] synthesis. This [[mutation]] is inherited through the family.
-* Crossed eyes ([[strabismus]])
-* Light sensitivity ([[photophobia]])
-* Rapid eye movements ([[nystagmus]])
-* Vision problems, or functional [[blind]]ness
-==What causes 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.
 ===Types of albinism===
-There are two main 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
-* Type 1 albinism is caused by defects that affect production of the pigment, [[melanin]].
+* [[Hermansky-Pudlak syndrome]]; causes white or [[hypopigmentation]] of [[skin]], [[hair]], and [[eyes]] along with [[bleeding]] and [[lung]] problems
-* Type 2 albinism is due to a defect in the "P" [[gene]]. People with this type have slight coloring at birth.
+* [[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]]
-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 albinism, 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.
-===Localized albinism===
-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 highest risk?==
-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>
+Individuals with familial history of [[albinism]] are at risk of [[albinism]]
 ==When to seek urgent 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]].
+* 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]] 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.
+[[Genetic testing]] is the most definite test for diagnosis. Additionally, [[ophthalmology]] examination is considered for evaluation of [[eye]] features.
-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.
 ==Treatment options==
-The goal of treatment is to relieve symptoms and depends on the severity of the disorder.
+The treatment options include:
-Treatment involves protecting the skin and eyes from the sun:
+* 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]]
-* Reduce [[sunburn]] risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
+===Diseases with similar symptoms===
-* Sunscreen should have a high [[sun protection factor]] (SPF).
+* [[Chédiak-Higashi syndrome]]
-* Sunglasses (UV protected) may relieve [[light sensitivity]].
+* [[Tuberous sclerosis]]
+* [[Hermansky-Pudlak syndrome]]
-Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements ([[nystagmus]]).
-==Diseases with similar symptoms==
-* [[Chédiak-Higashi syndrome (patient information)|Chediak-Higashi syndrome]]
-* [[Tuberous sclerosis (patient information)|Tuberous sclerosis]]
 * [[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]
-==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)==
+==What to expect (Outlook/Prognosis)?==
-Albinism does not usually affect lifespan. [[Hermansky-Pudlak syndrome]] can, however, shorten lifespan due to [[lung disease]] or [[bleeding]] problems.
+Patient with [[albinism]] has normal [[life expectancy]]
-People with albinism may be limited in their activities because they can't tolerate the sun.
+==Possible complications==
+* Decreased [[visual acuity]]
+* [[Skin cancer]]
-==Possible Complications==
+==References==
-*Decreased vision, blindness
+{{Reflist|2}}
-*Skin cancer
+{{WS}}
+{{WH}}
-==Sources==
-[http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm Medline Plus: Albinism]
-{{SIB}}
+[[Category:Endocrinology]]
-{{WH}}
-{{WS}}
-[[Category:Patient information]]
-[[Category:Mature chapter]]
-[[Category:Disease state]]
-[[Category:Genetic disorders]]
-[[Category:Inborn errors of metabolism]]
-[[Category:Genetic disorders patient information]]
-[[Category:Metabolic disorders]]
 [[Category:Dermatology]]
-[[Category:Dermatology patient information]]