Keratitis–ichthyosis–deafness syndrome

Keratitis–ichthyosis–deafness syndrome (also known as "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

Keratitis-ichthyosis-deafness syndrome
Other names"Erythrokeratodermia progressiva Burns"[1]

It is caused by a mutation in connexin 26.[4]

See also

References
  1. 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.
  2. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  4. "Hystrix-like ichthyosis with deafness". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 8 August 2014.
Classification


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