Piebaldism

Piebaldism is a rare autosomal dominant disorder characterized by the absence of melanocytes in certain areas of the skin and hair. It is a type of leukoderma and is often confused with vitiligo.

Causes

Piebaldism is caused by mutations in the KIT gene, which provides instructions for producing a protein that is involved in the development and function of several types of cells, including melanocytes. These cells produce the pigment melanin, which contributes to skin, hair, and eye color.

Symptoms

The most common symptom of piebaldism is the presence of patches of skin that lack pigmentation. These patches are usually present at birth and do not change in size or shape over time. The hair that grows in these areas is often white. Other symptoms may include a white forelock of hair and unpigmented eyebrows and eyelashes.

Diagnosis

Piebaldism is usually diagnosed based on the characteristic physical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for piebaldism. Treatment is usually aimed at improving the appearance of the skin and hair. This may include the use of cosmetics or hair dyes. In some cases, skin grafting may be considered.

See also

• Albinism
• Vitiligo
• Melanocyte
• Leukoderma

References

Piebaldism Resources
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