Piebaldism
Piebaldism
Piebaldism (pronunciation: /ˈpaɪˌbɔːldɪzəm/) is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical hypopigmented or depigmented macules.
Etymology
The term "Piebaldism" originates from the words 'pie' (from magpie) and 'bald' (meaning white or streaked with white). The term was used to describe the black and white plumage of the magpie, and later used to refer to this specific genetic disorder due to the similar appearance.
Symptoms
The most common symptom of Piebaldism is the presence of areas of skin that have no color. These areas are usually present at birth and do not usually spread or change later in life. The hair that grows in these areas is often white. The most distinctive sign of piebaldism is a white forelock of hair just above the forehead.
Causes
Piebaldism is caused by a mutation in the KIT gene. This gene provides instructions for making a protein that helps control many important cellular processes such as cell growth and division (proliferation), survival, and movement. Mutations in the KIT gene prevent these melanocytes from developing and functioning normally.
Treatment
There is currently no cure for Piebaldism. Treatment is usually focused on managing the symptoms and may include the use of cosmetics to cover the white patches of skin and hair, or medical tattooing to return color to the white patches of skin.
Related Terms
External links
- Medical encyclopedia article on Piebaldism
- Wikipedia's article - Piebaldism
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