A Case of Piebaldism Associated with Strabismus and Torticollis / 대한피부과학회지

ABSTRACT

Piebaldism is a rare autosomal dominant genetic disorder characterized by localized and stationary hypomelanosis of skin and hair secondary to an absence of melanocytes in the involved skin. Depigmentation in piebalrlism shows a characteristic distribution that involves the forehead, ventral chest, abdomen, and extremities. Cases of piebaldism have been reported in association with extracutaneous abnormalities such as heterochromia irides, osteopathia striata, deafness, mental retardation, and Hirschsprung's disease. We report a case of piebaldism associated with strabismus and torticollis in a 6-year-old female patient. Piebaldism associated with strabismus and torticollis has not been reported in any previous literature.