Keratitis–ichthyosis–deafness syndrome
| Keratitis-ichthyosis-deafness syndrome | |
|---|---|
| Other names | Erythrokeratodermia progressiva Burns,[1] ichthyosiform erythroderma, corneal involvement, and deafness, KID syndrome. |
 | |
| This condition is inherited in an autosomal dominant manner. | |
| Specialty | 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]: 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 978-1-4160-2999-1.
- ^ 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