The Keio Journal of Medicine
Online ISSN : 1880-1293
Print ISSN : 0022-9717
ISSN-L : 0022-9717
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Human hair abnormalities resulting from inherited desmosome gene mutations
John A McGrathVesarat Wessagowit
著者情報
キーワード: desmosome, hair, gene mutation
ジャーナル フリー

2005 年 54 巻 2 号 p. 72-79

詳細
抄録
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.
著者関連情報
© 2005 by The Keio Journal of Medicine
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