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Curth-Macklin type ichthyosis hystrix
MIM.146590
Tuesday 5 April 2011
Curth-Macklin type ichthyosis hystrix can be caused by mutation in the KRT1 gene (MIM.139350).
See also
keratinopathies
KRTs
References
Bonifas, J. M., Bare, J. W., Chen, M. A., Ranki, A., Neimi, K.-M., Epstein, E. H., Jr. Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin. J. Invest. Derm. 101: 890-891, 1993. [PubMed: 7504030]
Sprecher, E., Ishida-Yamamoto, A., Becker, O. M., Marekov, L., Miller, C. J., Steinert, P. M., Neldner, K., Richard, G. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J. Invest. Derm. 116: 511-519, 2001. [PubMed: 11286616]