Albinism (patient information): Difference between revisions

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{{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
==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

Alcoholic hepatitis

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

Diagnosis

When to seek urgent medical care?

Treatment options

Where to find medical care for Alcoholic hepatitis?

Prevention

What to expect (Outlook/Prognosis)?

Possible complications

Alcoholic hepatitis On the Web

Ongoing Trials at Clinical Trials.gov

Images of Alcoholic hepatitis

Videos on Alcoholic hepatitis

FDA on Alcoholic hepatitis

CDC on Alcoholic hepatitis

Alcoholic hepatitis in the news

Blogs on Alcoholic hepatitis

Directions to Hospitals Treating Alcoholic hepatitis

Risk calculators and risk factors for Alcoholic hepatitis

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:

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:

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

References

Template:WS Template:WH