Keratitis–ichthyosis–deafness syndrome
Keratitis-ichthyosis-deafness syndrome |
---|
Keratitis–ichthyosis–deafness syndrome (also known as "Erythrokeratodermia progressiva Burns,"[1] "Ichthyosiform erythroderma, corneal involvement, and deafness," and "KID syndrome,") presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.[2]:483,513[3]:565
It is caused by a mutation in connexin 26.[4]
See also
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 770. ISBN 1-4160-2999-0.
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ "Hystrix-like ichthyosis with deafness". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 8 August 2014.
External links
Classification |
---|
This article is issued from
Wikipedia.
The text is licensed under Creative Commons - Attribution - Sharealike.
Additional terms may apply for the media files.