Curth-Macklin type ichthyosis hystrix

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]