Conflicts of interest: The authors report no potential conflict of interest present, and the work that is reported in this manuscript has not received financial support from any pharmaceutical company or other commercial source.
Overview of skin diseases linked to connexin gene mutations
Article first published online: 15 MAY 2013
© 2013 The International Society of Dermatology
International Journal of Dermatology
Volume 53, Issue 2, pages 192–205, February 2014
How to Cite
Avshalumova, L., Fabrikant, J. and Koriakos, A. (2014), Overview of skin diseases linked to connexin gene mutations. International Journal of Dermatology, 53: 192–205. doi: 10.1111/ijd.12062
- Issue published online: 21 JAN 2014
- Article first published online: 15 MAY 2013
Mutations in skin-expressed connexin genes, such as connexins 26, 30, 30.3, 31, and 43, have been linked to several human hereditary diseases with multiple organ involvement. Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart–Pumphrey syndrome. Mutations in connexin 30 are correlated with Clouston syndrome. Connexin 30.3 and 31 mutations lead to erythrokeratoderma variabilis, and mutations in connexin 43 are correlated with oculodentodigital dysplasia. Provided is a review of these mutations and related skin disorders.