Keratitis-ichthyosis-deafness syndrome

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Keratitis-ichthyosis-deafness syndrome
ICD-10 GroupMajor.minor
ICD-9 xxx
OMIM 148210 242150
DiseasesDB 32841 Template:DiseasesDB2

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]

Synonyms and keywords: KID syndrome, Desmons syndrome, Erythrokeratodermia progressiva burns

Overview

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

Pathophysiology

It is caused by a mutation in connexin 26.

Diagnosis

Symptoms

  • Hyperkeratotic skin lesions
  • Corneal epithelial defects
  • Scarring
  • Keratitis
  • Congenital sensorineural hearing loss
  • Loss of eyebrows and lashes
  • Trichiasis
  • Keratoconjunctivitis sicca

References

  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 770. ISBN 1-4160-2999-0.
  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.


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