Keratitis-ichthyosis-deafness syndrome

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

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 770. ISBN 1-4160-2999-0.
↑ Freedberg, et al. (2003). Fitzpatrick’s Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
↑ 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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[Bolognia-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.

[Fitz2-2] Freedberg, et al. (2003). Fitzpatrick’s Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Andrews-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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