| Over the last eight years, several naturally occurring human gene mutations in structural
components of desmosomes, cell-cell adhesion junctions found in skin, heart and meninges, have been
reported. These comprise dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin,
desmoglein 1, desmoglein 4, plakoglobin and corneodesmosin. Of note, as well as compromising
tissue integrity, many of the resulting phenotypes have been associated with visible changes in hair.
This article describes the particular hair abnormalities resulting from these desmosome gene mutations.
Collectively, the data demonstrate the surprising effects inherited desmosome gene/protein pathology
may have on hair growth and development. Further analysis of these and other desmosome genes is
likely to resolve more hair disease mysteries and provides several further intriguing new discoveries in
years to come. |
