Síndrome de Keratitis, Ictiosis y Sordera KID
Resumen
El síndrome de queratitis, ictiosis y sordera(KID) es una displasia ectodérmica congénita que afecta a la epidermis, el epitelio corneal y el oído interno, caracterizándose por lesiones dérmicas hiperqueratósicas, alopecia cicatricial, distrofia ungueal, anomalías dentarias, pérdida auditiva neurosensorial y neovascularización corneal progresiva en la literatura. Se presenta caso de paciente natural de Ejido, procedente de Mérida quien presenta características que cumplen con los criterios clínicos para síndrome.
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Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal displasia keratitis–ichthyosis–deafness syndrome. Am J Hum Genet 2002; 70: 1341–1348.
Journal of Investigative Dermatology (2009) 129, 776–779; doi:10.1038/jid.2008.312; published online 9 October 2008. Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2Maternal Mosaicism
Nousari HC, Kimyai-Asadi A, Pinto JL. KID syndrome associated with featuresof ichthyosis hystrix. Pediatr Dermatol 2000;17:115-7.
Javier Romero Gómez, Ángel Vera Casaño, Vicente Crespo Erchiga, Síndrome KED, Piel, Volume 17, Issue 10, 2002,Pages 484-488,ISSN 0213-9251.
S.SHIRAISHI, S.MURAKAMI AND Y.MIKI. Oral fiuconazole treatment of fungating candidiasis in the keratitis, ichthyosis and deafness (KID) síndrome. British Journal of Dermatology {1994) 131, 904-907.
J. Mazereeuw-Hautier,_ E. Bitoun,_ J. Chevrant-Breton,_ S.Y.K. Man,§ C. Bodemer,– C. Prins, C. Antille, J.-H. Saurat, D. Atherton,__ J.I. Harper,__ D.P. Kelsell§ and A. Hovnanian. Keratitis–ichthyosis–deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
Alessandro Terrinoni , Andrea Codispoti, Valeria Serra, Biagio Didona, Ernesto Bruno, Robert Nisticò d,e, Michela Giustizieri, Marco Alessandrini c, Elena Campione f, Gerry Melino a,g,. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. Biochemical and Biophysical Research Communications 394 (2010) 909–914.
Shashi A.M. Kumar, MD, Mitchell R. Lester, MD and Donna L. Bratton, M D. KID Syndrome Associated With Elevated Sweat Chloride. Pediatric Pulmonology 21:192-194 (1996).
Nousari HC, Kimyai-Asadi A, Pinto JL. KID syndrome associated with features of ichthyosis hystrix. Pediatr Dermatol 2000;17:115-7.
Shashi A.M. Kumar, MD,' Mitchell R. Lester, MD? and Donna L. Bratton, M D. KID Syndrome Associated With Elevated Sweat Chloride. Pediatric Pulmonology 21:192-194 (1996).
Han MA,1 Panpan LIANG,2 Jian CHEN,1 Peiying FENG,1 Wei LAI. Keratitis–ichthyosis–deafness syndrome accompanied by disseminated cutaneous fungal infection. Journal of Dermatology 2017: 1–7.
GÓMEZ-FAÍÑA P1, RUIZ-VIÑALS AT2, BUIL-CALVO JA3, ESPAÑA-ALBELDA A1, PAZOS-LÓPEZ M1, CASTILLA-CÉSPEDES M. Patient with severe corneal disease in kid syndrome. arch soc esp oftalmol 2006; 81: 225-228.
Cáceres-Ríos H, Tamayo-Sanchez L, Orozco ML, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol 1996;13:105-13.
Gómez-Faíña p, Ruiz-Viñals at, Buil-Calvo ja, España-Albelda A, Pazos-López m, Castilla-Céspedes m. Patient with severe corneal disease in kid syndrome. Arch Soc Esp Oftalmol 2006; 81: 225-228
Luciana A. Conrado, MD, Silvio A. Marques, PhD, Joel C. Lastoria, PhD, Luís Carlos Cucé, PhD, Mariangela E. A. Marques, PhD , and Neusa L. Dillon, PhD. Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. Medical genetics – Case report
Sera SJmsek Derelioglu, Yücel YJlmaz, and Sultan Keles. Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome. Case Reports in Dentistry Volume 2013; 1-6.
Golder N. Wilson, Robert H. Squires, Jr., and Arthur G. Weinberg. Keratitis, Hepatitis, Ichthyosis, and Deafness:Report and Review of KID Syndrome. American Journal of Medical Genetics 40255-259 (1991)
Derechos de autor 2025 María Alejandra Velásquez Quiroga , Cristian Camilo Ballesteros López, Jonatan Ferley Vasquez Castro, Maira Alejandra Puerta Medina , Elianis Gonzalez Perez , José Miguel Barón Martínez , Ramiro José Andrade Brieva , Sara Julieth Giraldo Sangregorio, Veronica Doria Rodriguez
Esta obra está bajo licencia internacional Creative Commons Reconocimiento 4.0.
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