Skin: Hereditary Disorders

Abstract

There are many disorders with skin phenotypes for which the underlying molecular defect is now known. These include blistering diseases, pigmentary disorders, disorders of cornification and those with tumor predisposition.

Keywords: skin disorder; genodermatoses; epidermis; dermis; dermatology

References

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Further Reading

Arin MJ and Roop DR (2001) Disease model: heritable skin blistering. Trends in Molecular Medicine 7: 422–424.

Fine J‐D, Eady RAJ, Bauer EA, et al. (2000) Revised Classification System for Inherited Epidermolysis Bullosa. Report of the second International Consensus Meeting on Diagnosis and Classification of Epidermolysis Bullosa. Journal of the American Academy of Dermatology 42(6): 1051–1066.

Frank J and Christiano AM (1998) Variegate porphyria: past, present and future. Skin Pharmacology and Applied Skin Physiology 11: 310–320.

Irvine AD and McLean WHI (1999) Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation. British Journal of Dermatology 140: 815–828.

Ishida‐Yamamoto A, Takahashi H and Iizuka H (1998) Loricrin and human skin diseases: molecular basis of loricrin keratodermas. Histology and Histopathology 13: 819–826.

McGrath JA and Barker JNWN (2001) Cell Adhesion and Migration in Skin Disease, pp. 27–55, London, UK: Harwood Academic Publishers.

Mao JR and Bristow J (2001) The Ehlers–Danlos syndrome: on beyond collagens. Journal of Clinical Investigations 107: 1063–1069.

Priolo M and Lagana C (2001) Ectodermal dysplasias: a new clinical–genetic classification. Journal of Medical Genetics 38: 579–585.

Richard G (2000) Connexins: a connection with the skin. Experimental Dermatology 9: 77–96.

van Steeg H and Kraemer KH (1999) Xeroderma pigmentosum and the role of UV‐induced DNA damage in skin cancer. Molecular Medicine Today 5: 86–94.

Web Links

Intermediate Filament Mutation Database. By Cassidy AJ, Irvine AD, Lane EB and McLean WHI (2002) http://www.interfil.org

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How to Cite close
Corden, Laura D, McLean, WH Irwin, and Irvine, Alan D(Jan 2006) Skin: Hereditary Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005525]