| Keratitis-ichthyosis-deafness syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | GroupMajor.minor |
| ICD-9 | xxx |
| OMIM | 148210 242150 |
| DiseasesDB | 32841 32842 |
Keratitis–ichthyosis–deafness syndrome (also known as "Desmons' syndrome," "Erythrokeratodermia progressiva Burns,"[1] "Ichthyosiform erythroderma, corneal involvement, and deafness," "KID syndrome," and "Senter syndrome") presents at birth/infancy and is characterized by pregressive 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.
See also
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 770. ISBN 1-4160-2999-0.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
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