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Albinism

Albinism is the partial or complete failure of melanin production in the skin and eyes.
There are many forms of albinism. The most dermatologically significant are:

Albinism-tyrosinase negative
  • Recessive. Pink skin, white hair, ocular red reflex secondary to iris translucency. Photophobia and nystagmus are common. Visual acuity is often decreased.
Albinism-tyrosinase positive
  • Recessive. Some pigment may be present, and lentigines can develop secondary to actinic damage. The iris is not transparent. Photophobia and Nystagmus are common. Visual acuity is often decreased.
Albinism-yellow mutant
  • By age 1, the hair has changed from white to yellow red.

Aside from the obvious ocular disability, the development of ultraviolet light-induced skin cancer is a major clinical problem. These skin cancers include melanoma which are typically amelanotic and difficult to diagnose.

Treatment:

  • Sun awareness, the use of appropriate clothing, and broad spectrum sunscreens from an early age are appropriate.
albinism


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