HistoryThis section has been translated automatically.
Burns, 1915
DefinitionThis section has been translated automatically.
Hereditary erythrokeratoderma with deafness and keratitis.
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EtiopathogenesisThis section has been translated automatically.
Discussed are autosomal-recessive, spontaneous and autosomal-dominantly inherited mutations of the GJB2 gene mapped on the 13q11-12 gene locus that lead to the expression of faulty connexin-26 and cause defective intercellular connections.
ManifestationThis section has been translated automatically.
Congenital or occurring within the 1st year of life.
Clinical featuresThis section has been translated automatically.
Integument: Development of slowly progressive, symmetrical, erythematous, verrucous plaques with sharp borders on cheeks, nose, ears, chin, elbows, knees and heels. Frequent diffuse palmoplantar keratosis. Sparse fine scalp hair, absent eyebrows and eyelashes, partial scarring alopecia and nail dystrophies.
Extracutaneous manifestations: heat intolerance. Recurrent tendency to infections ( pyoderma and mycoses). Hearing impairment ranging from moderate sensorineural or conductive hearing loss to deafness; ocular changes: photophobia, blepharoconjunctivitis, vascularizing keratitis, corneal ulcerations, blindness.
TherapyThis section has been translated automatically.
No causal therapy known. Interdisciplinary therapy approach involving ophthalmologists and psychologists is essential. Consistent and gentle skin care is required due to the extreme dryness of the skin. S.u. ichthyosis.
LiteratureThis section has been translated automatically.
- Burns FS (1915) A case of generalized congenital keratoderma. J Cutan Dis 33: 255-260
- Kim KH et al (2002) Keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours. Br J Dermatol 147: 139-143
- Miteva L (2002) Keratitis, ichthyosis, and deafness (KID) syndrome. Pediatric Dermatol 19: 513-516
- Sahoo B et al (2002) KID syndrome: response to acitretin. J Dermatol 29: 499-502
- Richard G et al (2002) Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. At J Hum Genet 70: 1341-1348
- Yotsumoto S et al (2003) Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol 148: 649-653
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Outgoing links (8)
Alopecia scarring; Connexine; Erythema; Ichthyosis (overview); Mycoses; Palmoplantar keratoses (overview); Pyoderma; Warts ;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer