Tuesday, September 20, 2011

Name That Disease #11

This is another instance where I use the term "disease" rather liberally.

This person has albinism! Albinism is a disorder that is often, when it does occur, inherited and as such can run in families. It can be partial (only the eyes, patches of skin, or a small lock or hair) or complete (where there is no pigment on the body). Though this image only shows the person's eyes, it is actually a case of complete albinism. This seems pretty obvious to me because of the stark whiteness of the person's eyelashes. On occasion, this condition can be associated with eye problems such as abnormal eye movements, sensitivity, crossed eyes, and reduced vision.

People with albinism can live full, productive lives, though they do need to protect themselves from the sun. Since they have absolutely no pigment at all, sun will be far more damaging to them than to people without the condition. Numerous animals are also known to produce partial or complete albinos. For example, Siamese cats and others with similar coloring are partial albinos. 

In humans, types of albinism vary greatly and include:
  • Oculocutaneous albinism - person has no pigment whatsoever
  • Ocular albinism - person appear normal and only the retina lacks pigment
  • Hermansky-Pudlak syndrome - can come with blood, lung, or bowel issues
  • Chediak-Higashi syndrome - skin partly albino, comes with neurological issues
  • Tuberous sclerosis - small spots of skin lack color, affects the central nervous system
  • Waardenburg syndrome- one or both eyes or a lock of hair will lack pigment

Source is PubMed Health from the U.S. National Library of Medicine. Image is from Wikimedia Commons under a creative commons license.

No comments:

Post a Comment