Molecular genetics of human hair diseases

Abstract

• Eda-A1/Edar/Edaradd/NF-κB is a key signaling pathway for hair follicle morphogenesis. • Hairless is a critical transcription factor to control the catagen phase of the hair cycle. • FOXN1 is involved in regulating the expression of hair keratin genes. • Switching of two classical cadherin members in the hair follicle placode is an important event for hair follicle development. • EEM syndrome (ectodermal dysplasia, ectrodactyly, macular dystrophy), Naxos disease (palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair) and Clouston syndrome (hidrotic ectodermal dysplasia) are molecularly well characterized. • Desmosomal components maintain hair follicle structure and differentiation. • Involvement of gap junction proteins in hair diseases is reported. • LIPH (membrane-associated phosphatidic acid-selective phospholipase A1 alpha) and P2RY5 are new candidate genes for congenital hair disorders. © 2008 Springer-Verlag.