학술논문
Piebaldism: an update.
Document Type
Article
Author
Source
Subject
*PIGMENTATION disorders
*PROTO-oncogenes
*SKIN diseases
*MELANOCYTES
*PROTEIN-tyrosine kinases
*EPITHELIAL cells
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*
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Language
ISSN
0011-9059
Abstract
The article focuses on piebaldism, a rare autosomal dominant disorder, resulting from mutations of the kit proto-oncogene. The kit proto-oncogene encodes the cell-surface receptor transmembrane tyrosine kinase for the steel factor, an embryonic growth factor. The disorder is characterized by the congenital absence of melanocytes in affected areas of the skin and hair, due to mutations of the kit proto-oncogene, which affects the differentiation and migration of melanoblasts. Treatments like grafting and phototherapy may be tried.