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Keratitis–ichthyosis–deafness syndrome

From Wikipedia, the free encyclopedia
Keratitis-ichthyosis-deafness syndrome
Other namesErythrokeratodermia progressiva Burns,[1] ichthyosiform erythroderma, corneal involvement, and deafness, KID syndrome.
This condition is inherited in an autosomal dominant manner.
SpecialtyMedical 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

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References

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  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.
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