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Keratitis–ichthyosis–deafness syndrome

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Title: Keratitis–ichthyosis–deafness syndrome  
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Subject: Ichthyosis hystrix, Channelopathy, Erythrokeratodermia variabilis, Clouston's hidrotic ectodermal dysplasia, Progressive symmetric erythrokeratodermia
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Keratitis–ichthyosis–deafness syndrome

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 "Erythrokeratodermia progressiva Burns,"[1] "Ichthyosiform erythroderma, corneal involvement, and deafness," and "KID 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.[4]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 770.  
  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. 


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