Patient with severe corneal disease in kid syndrome;Paciente con enfermedad corneal severa en el contexto del síndrome kid

Archivos de la Sociedad Espanola de Oftalmologia

Volumn 81, Issue 4, 2006, Pages 225-228

  Gómez Faíña, Pablo ^a,c   Ruiz Vinals A T ^b   Buil Calvo, J A ^a   Espana Albelda A ^a   Pazos Lopez M ^a   Castilla Cespedes M ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b Hospital Municipal de Badalona   (Spain)

^c NONE   (Spain)

Author keywords

Connexins; Deafness; Ichthyosis; Keratitis; Limbal stem cell

Indexed keywords

EYE DROPS;

ADULT; ARTICLE; CASE REPORT; EYE DISEASE; FEMALE; GENETICS; HEARING IMPAIRMENT; HUMAN; ICHTHYOSIS; KERATITIS; MUTATION; PERCEPTION DEAFNESS; SYNDROME; VISUAL ACUITY;

ADULT; DEAFNESS; EYE DISEASES; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; ICHTHYOSIS; KERATITIS; MUTATION; OPHTHALMIC SOLUTIONS; SYNDROME; VISUAL ACUITY;

EID: 33750135260     PISSN: 03656691     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol 1981; 117: 285-289.
2. Burns FS. A case of generalized congenital keratoderma with unusual involvement of the eyes, ears, and nasal and buccal mucous membranes. J Cutan Dis 1915; 33: 255-260.
3. Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 2005; 112: e1-e6.
4. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002; 70: 1341-1348.
5. Tuppurainen K, Fraki J, Karjalainen S, Paljarvi L, Suhonen R, Ryynanen M. The KID-syndrome in Finland. A report of four cases. Acta Ophthalmol (Copenh) 1988; 66: 692-698.