Piebaldism

Excerpt

Piebaldism is an autosomal dominant disorder affecting melanocyte migration and development characterized by isolated congenital leukoderma (white skin) and poliosis (white hair) in a distinct ventral midline pattern. The most common cause of piebaldism is a mutation in the KIT proto-oncogene. However, researchers have identified other mutations. This mutation leads to abnormal melanocyte migration from the neural crest leading to leukoderma affecting the central forehead, central frontal scalp, mid-portion of the extremities, and central anterior trunk. Poliosis affecting a lock of hair just above the forehead is the most common finding in this disease. Histopathologic examination of the affected areas reveals an absence of melanocytes in the epidermis and hair follicles. If the diagnosis of piebaldism is suspected, a careful examination should take place to exclude overlapping syndromes with extra-cutaneous manifestations, such as Waardenburg syndrome. Although benign and isolated to the skin, piebaldism can be socially disabling for affected individuals. Treatment is targeted to improve cosmesis, including skin grafting, cell transplantation, camouflage techniques, and the use of hair dye for poliosis.