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Monday, April 7, 2014

Types of Albinism


Twin Sisters, One albino
, Photo by Rick Guidotti, director of POSITIVE EXPOSURE



The word albinism derives from the Latin word albus - meaning white. 

The opposite of albinism is melanism



Signs of albinism are usually, but not always, apparent in a person's skin, hair and eye color. Regardless of the effect of albinism on appearance, all people with the disorder experience vision impairments. -Mayo Clinic

With common types of albinism, people can live a healthy life, with proper sun protection.

There are some rare types of albinism that include symptoms that can shorten one's life. 



Ocular albinism 


Ocular albinism affects the eyes which tend to have rapid involuntary eye movements (video) and the coloring of the eye is reduced. Vision is often in the range of 20/40 to 20/400 due to a number of complications with the eyes and eye nerves. It does not worsen over time however. Life span is normal.

Ocular albinism, without full albinism, occurs less frequently.


From the color of the eyes, the average person probably could not tell if someone has ocular albinism. By the rapid eye movement though, one could tell. Click photo for video. 

Presentation
Patients with ocular albinism usually have almost normal skin and hair color, but they tend to have lighter skin and hair color than their siblings, especially in darker skin populations.

The color of the iris is usually blue but can vary being any normal color: brown, tan, hazel, grey, blue-grey, or green. Almost all patients have iris transillumination defects.





Not to be confused with regular colored eyes, which have no vision problem. (photos and more photos of natural colored eyes).

A common myth is that people with albinism have red eyes. The eyes are not red, but due to lack of melanin a pinkness can be seen with the right lighting and when a camera flash reflects the hemoglobin off the back of the eye. 


Oculo-cutaneous albinism 


Oculocutaneous albinism is similar to above but also affects the skin and hair. There are four types. 


  1. Type 1 allows no pigment. Hair is white, skin is very pale, and irises are light-colored.
  2. Type 2 is less severe and allows some pigment. Hair is light yellow, blond, or light brown, skin is usually a creamy white color, and may even have the ability to tan.
  3. Type 3 usually affects dark-skinned people. Hair is reddish-brown, or red. Eyes are hazel or brown. Vision abnormalities are milder. 
  4. Type 4 is similar to type 2 but has a different genetic cause.

Life span is normal, with proper sun protection. 

About 1 in 17,000 people worldwide are born with oculocutaneous albinism. 


It is a myth that people with albinism have white skin and pink or red eyes. The flash of cameras illuminating the back of the eye make the eyes look more pink or red than they look in normal conditions. The myth of white skin is perpetuated due to so many photo-shopped images. Melanin is less or absent, but the lack of melanin actually allows one to see through to the colors below in many cases. 



Skin color is made from three sources in addition to the thickness of the top layer of skin. 


Griscelli Syndrome 

Griscelli Syndrome is a rare type of albinism. 

There are three types of Grescelli Syndrome, each caused by a different gene mutation. -Medscape 

Without bone marrow transplantation, Griscelli syndrome results in death. The mean patient age at the time of death is 5 years. -Medscape

Some complications are enlargement of the liver and spleen, and lowered resistance to infection. 

PresentationHair can be silvery gray, silvery, grayish golden, or dusty. The skin is usually pale, but albinism is not complete. -Medscape

In a blog by Kitt Hansen, she explains that her first daughter Verona had silvery hair and the doctors thought her conditions were from other syndromes. When her third daughter Rebecca was born and had the same silvery hair they knew to tell the doctors that it could be Griscelli Syndrome. Read more about Verona and Rebecca on the blog GriscelliSyndrome.dk


Rebecca, born with Griscelli Syndrome, had bone marrow transplant.

Photos of Rebecca, born with Griscelli Syndrome


Hermansky-Pudlak Syndrome 

Hermansky-Pudlak Syndrome is a rare type of albinism and may involve bleeding disorders, bruising, lung problems, intestinal disorders, and vision of about 20/60 to 20/400


Family from Puerto Rico -Photo from Heather Kirkwood

Frequency of HPS is from 1 in 500,000 to 1 in 1,000,000 individuals worldwide, but more common in Puerto Rico, particularly in the northwestern region where about 1 in 1,800 people are affected -U.S. National Library of Medicine

Its systemic manifestations unfold over time and are uncommon in childhood. 

Most patients with Hermansky-Pudlak syndrome (about 70%) die from complications related to this syndrome. Pulmonary fibrosis leads to death in almost 50% of patients with Hermansky-Pudlak syndrome, usually in the fourth decade of life. Bleeding leads to death in about 10% of patients with Hermansky-Pudlak syndrome. Other causes of death include intestinal, liver, and kidney failure. -Medscape

Children with albinism should not take aspirin and products that effect platelet function unless it is certain that they do not have HPS. Because of it's rarity and the way the symptoms vary, doctors should be informed about the possibility of bleeding complications before surgery on people with albinism. -NOAH

Presentation
Hair color varies from light blonde to dark brown. Hair and skin pigmentation is darker in patients with HPS type 3. The latter have brown hair and iris color. -Medscape


Chediak-Higashi Syndrome 


Chediak-Higashi Syndrome is a rare form of partial albinism which includes eye sensitivity to light, nerve damage which can affect sensation, movement, organ function and moreand a lowered resistance to infection. 

Death often occurs in the first decade as a result of infection, bleeding, or development of the accelerated lymphomalike phase, but survival into the second and third decades has been reported. -Medscape



Presentation
Hair is light blonde or silvery gray and may be sparse. -Medscape