Keratitis–ichthyosis–deafness syndrome explained
Keratitis-ichthyosis-deafness syndrome |
Synonyms: | Erythrokeratodermia progressiva Burns,[1] ichthyosiform erythroderma, corneal involvement, and deafness, KID syndrome. |
Field: | Medical genetics |
Keratitis–ichthyosis–deafness syndrome (KID syndrome), also known as ichthyosiform erythroderma, corneal involvement, and deafness, presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.[2] [3] It is caused by a mutation in connexin 26.[4]
See also
Notes and References
- Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 770 . 978-1-4160-2999-1 .
- Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. .
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
- Web site: Hystrix-like ichthyosis with deafness. Genetics Home Reference. U.S. National Library of Medicine. 8 August 2014.