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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]