Piebaldism Cause Courses

Piebaldism is a rare genetic disorder caused by a faulty gene, the PAX3 gene. It affects the body’s ability to produce pigment and is characterized by patches of color on the skin, hair and/or eyes. Common symptoms of piebaldism include patchy or completely absent skin pigmentation, a white forelock of hair on the top of the head, the absence of color in large areas of the skin and eyes or incomplete penetrance of melanocytes (cells that produce pigment). Skin pigmentation, hair color and eye color can bow both affect areas that are present in one location but absent in another. The cause of piebaldism is a mutation in the PAX3 gene, which is located on chromosome 2. This gene is responsible for producing a protein called PAX3, which helps regulate how melanocytes (cells that produce pigment) form during early development and the way they disperse after they’re formed. A defect in the PAX3 gene interrupts the production or distribution of melanocytes, leading to the characteristic white spots or patches of skin, hair and eyes. Piebaldism is a recessive disorder, meaning that both parents must have a copy of the faulty gene for their child to develop the disorder. If only one parent has the mutated gene, then the child can be a carrier without showing symptoms.