Abstract
Human piebaldism is a rare autosomal dominant disorder characterized by congenital depigmented patches of skin and hair. Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. We report four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.
MeSH terms
-
Adolescent
-
Adult
-
DNA Mutational Analysis
-
Female
-
Genes, Dominant*
-
Humans
-
Male
-
Mast Cells
-
Mutation
-
Pedigree
-
Phenotype
-
Piebaldism / genetics*
-
Piebaldism / pathology
-
Proto-Oncogene Mas
-
Proto-Oncogene Proteins / genetics*
-
Proto-Oncogene Proteins c-kit
-
Receptor Protein-Tyrosine Kinases / genetics*
-
Receptors, Colony-Stimulating Factor / genetics*
-
Skin / pathology
Substances
-
MAS1 protein, human
-
Proto-Oncogene Mas
-
Proto-Oncogene Proteins
-
Receptors, Colony-Stimulating Factor
-
Proto-Oncogene Proteins c-kit
-
Receptor Protein-Tyrosine Kinases