Keratitis-ichthyosis-deafness syndrome: Difference between revisions
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{{CMG}}; {{AE}} {{ADI}} | {{CMG}}; {{AE}} {{ADI}} | ||
'''''Synonyms and keywords:''''' KID syndrome, Desmons syndrome | '''''Synonyms and keywords:''''' KID syndrome, Desmons syndrome, Erythrokeratodermia progressiva burns | ||
==Overview== | ==Overview== | ||
'''Keratitis–ichthyosis–deafness syndrome''' (also known as "Erythrokeratodermia progressiva burns,"<ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=770 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref> "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.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.</ref>{{rp|483,513}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref>{{rp|565}} | '''Keratitis–ichthyosis–deafness syndrome''' (also known as "Erythrokeratodermia progressiva burns,"<ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=770 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref> "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.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.</ref>{{rp|483,513}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref>{{rp|565}} | ||
==Pathophysiology== | ==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== | ==References== | ||
Latest revision as of 15:22, 27 July 2012
| Keratitis-ichthyosis-deafness syndrome | |
| ICD-10 | GroupMajor.minor |
|---|---|
| ICD-9 | xxx |
| OMIM | 148210 242150 |
| DiseasesDB | 32841 Template:DiseasesDB2 |
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.