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Molecular Genetics of Human Hair Diseases

  • Chapter
Hair Growth and Disorders

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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.

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Authors and Affiliations

  1. Departments of Dermatology and Genetics & Development, Columbia University College of Physicians and Surgeons, 630 West 168th Street, 10032, New York, NY, USA

    Yutaka Shimomura & Angela M. Christiano

  2. Department of Dermatology, Hadassah-Hebrew University Medical Center, 91120, Jerusalem, Israel

    Abraham Zlotogorski

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  1. Yutaka Shimomura
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  2. Abraham Zlotogorski
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  3. Angela M. Christiano
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Editors and Affiliations

  1. Clinical Research Center for Hair and Skin Physiology (CRC), Charité -Universitätsmedizin Berlin, Charitéplatz 1, 11017 , Berlin, Germany

    Ulrike Blume-Peytavi

  2. Department of Dermatology, University of Bologna, Via Massarenti, 1, 40138 , Bologna, Italy

    Antonella Tosti

  3. Department of Dermatology, University Hospital of Zürich, Gloriastrasse 31, 8091 , Zürich, Switzerland

    Ralph M. Trüeb

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Shimomura, Y., Zlotogorski, A., Christiano, A. (2008). Molecular Genetics of Human Hair Diseases. In: Blume-Peytavi, U., Tosti, A., Trüeb, R. (eds) Hair Growth and Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-46911-7_6

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