Keratitis–ichthyosis–deafness syndrome

Medical condition
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

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.

External links

Classification
D
  • ICD-10: GroupMajor.minor
  • ICD-9-CM: xxx
  • OMIM: 148210 242150
  • MeSH: C537363
  • DiseasesDB: 32841
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Diseases of ion channels
Calcium channel
Voltage-gated
Ligand gated
Sodium channel
Voltage-gated
Constitutively active
Potassium channel
Voltage-gated
Inward-rectifier
Chloride channel
TRP channel
Connexin
Porin
See also: ion channels


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