Skin: Hereditary Disorders


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


Chavanas S, Bodemer C, Rochat A, et al. (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genetics 25: 141–142.

De Laurenzi V, Rogers GR, Hamrock DJ, et al. (1996) Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genetics 12: 52–57.

Huber M, Rettler I, Bernasconi K, et al. (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267: 525–528.

King RA, Mentink MM and Oetting WS (1991) Non‐random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase‐related) oculocutaneous albinism. Molecular Biology and Medicine 8: 19–29.

Kruse R, Lamberti C, Wang Y, et al. (1996) Is the mismatch repair deficient type of Muir–Torre syndrome confined to mutations in the hMSH2 gene? Human Genetics 98: 747–750.

McKoy G, Protonotarios N, Crosby A, et al. (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). The Lancet 355: 2119–2124.

Richard G, Smith LE, Bailey RA, et al. (1998) Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nature Genetics 20: 366–369.

Ringpfeil F, Lebwohl MG, Christiano AM and Uitto J (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP‐binding cassette (ABC) transporter. Proceedings of the National Academy of Sciences of the United States of America 97: 6001–6006.

Sakuntabhai A, Burge S, Monk S and Hovnanian A (1999) Spectrum of novel ATP2A2 mutations in patients with Darier disease. Human Molecular Genetics 8: 1611–1619.

Vikkula M, Boon LM, Carraway III KL, et al. (1996) Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 87: 1181–1190.

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)

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

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. [doi: 10.1038/npg.els.0005525]