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hair genetic diseases
Sunday 5 February 2006
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.
Etiology
dominant or recessive mutations in
- plakophilin-1 (PKP1)
- plakophilin-2 (PKP2)
- desmoplakin (DSP)
- desmoglein-1 (DSG1)
- desmoglein-4 (DSG4)
- plakoglobin (JUP)
- corneodesmosin (CDSN)
See also
desmosomes
- desmosomal proteins
References
McGrath JA, Wessagowit V. Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med. 2005 Jun;54(2):72-9. PMID: 16077256
van Steensel MA, van Geel M, Steijlen PM. Molecular genetics of hereditary hair and nail disease. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):52-60. PMID: 15468149
