Keratitis–ichthyosis–deafness syndrome

Keratitis-ichthyosis-deafness syndrome
Other names: "Erythrokeratodermia progressiva Burns"[1]
Finely scaly ichthyosiform dry skin, aged appearance of the face

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 

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. Archived from the original on 8 July 2014. Retrieved 8 August 2014.
Classification


This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.