What is piebaldism? Piebaldism is an uncommon autosomal dominant depigmentation disorder that is characterized by a white scalp forelock and hyperpigmented macules within areas of skin depigmentation. Piebaldism is due to mutations on the KIT protooncogene that is located on chromosome 4. A normal KIT receptor is required for normal development and migration of melanocytes. Melanocytes migrate during embryologic development in a dorsal-to-ventral direction; melanocytes in piebaldism fail to properly migrate to ventral skin surfaces, such as the forehead, abdomen, and volar arms and legs. For this reason, depigmented areas in piebaldism predominate on ventral skin surfaces. Patients are otherwise healthy. There is no treatment available for piebaldism. |
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