Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Keratitis-ichthyosis-deafness syndrome
Introduction
Synonyms and keywords: KID syndrome, Desmons syndrome, Erythrokeratodermia progressiva burns
Overview
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
Pathophysiology
It is caused by a mutation in connexin 26.
Diagnosis
Diagnosis
Symptoms
- Hyperkeratotic skin lesions
- Corneal epithelial defects
- Scarring
- Keratitis
- Congenital sensorineural hearing loss
- Loss of eyebrows and lashes
- Trichiasis
- Keratoconjunctivitis sicca
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]