Academic literature on the topic 'Keratitis-ichthyosis-deafness'

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Journal articles on the topic "Keratitis-ichthyosis-deafness"

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Madjako, Soumahoro Nina, Fofana Youssouf, Koné Djeneba, et al. "Keratitis - Ichthyosis - Deafness Syndrome (KID): A Case at the Bamako Dermatology Hospital." SAS Journal of Medicine 9, no. 06 (2023): 587–89. http://dx.doi.org/10.36347/sasjm.2023.v09i06.003.

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Summary: The syndrome of keratitis - ichthyosis - deafness (KID) is a rare genetic disorder associating: keratitis, ichthyosis and deafness. We report a case at the dermatology hospital in Bamako (Mali). A 6-month-old boy consulted at the Bamako Dermatology Hospital for a generalized rash evolving since birth associated with psychomotor retardation. Dermatological examination showed warty-looking hyperkeratotic lesions on the trunk, keratoderma palmo -plantar of velvety aspect. Nails were thickened with brown color and onychodysplasia. The axillary folds were the seat of a cupboard covered wit
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Nurse, D. S. "Keratitis, ichthyosis, deafness (KID) syndrome." Clinical and Experimental Dermatology 19, no. 3 (1994): 280. http://dx.doi.org/10.1111/j.1365-2230.1994.tb01189.x.

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Tsuzuku, Toshihiro, Kimitaka Kaga, Akihiko Shibata, Shuichi Kanematsu, and Schyu Ohde. "Temporal Bone Findings in Keratitis, Ichthyosis, and Deafness Syndrome." Annals of Otology, Rhinology & Laryngology 101, no. 5 (1992): 413–16. http://dx.doi.org/10.1177/000348949210100507.

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In 1981, the term KID syndrome was suggested for patients with congenital ichthyosis associated with deafness and keratitis. We had a chance to examine the temporal bone of an infant with this syndrome. This patient showed no auditory brain stem response in either ear. Temporal bone studies revealed cochleosaccular abnormality. These findings are offered as a possible explanation for the patient's deafness. The pathologic inner ear findings of congenital deafness syndromes associated with ichthyosis have been heretofore reported in Refsum's syndrome and in a case with universal alopecia. In th
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Ahmadi, S., and K. McKenna. "Keratitis-ichthyosis-deafness syndrome and carotenaemia." Clinical and Experimental Dermatology 28, no. 4 (2003): 394–96. http://dx.doi.org/10.1046/j.1365-2230.2003.01316.x.

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Singh, Kamlender. "KERATITIS, ICHTHYOSIS AND DEAFNESS (KID SYNDROME)." Australasian Journal of Dermatology 28, no. 1 (1987): 38–41. http://dx.doi.org/10.1111/j.1440-0960.1987.tb00329.x.

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Reynolds, N. J., and C. T. C. Kennedy. "(4) Keratitis ichthyosis deafness (KID) syndrome." British Journal of Dermatology 123, s37 (1990): 77–80. http://dx.doi.org/10.1111/j.1365-2133.1990.tb04490.x.

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McGrae, John D. "Keratitis, Ichthyosis, and Deafness (KID) Syndrome." International Journal of Dermatology 29, no. 2 (1990): 89–93. http://dx.doi.org/10.1111/j.1365-4362.1990.tb04075.x.

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Levine, Paul A., Michael R. Morris, Ari Namon, Gary Y. Shaw, William R. Panje, and Ernest E. Mhoon. "The Keratitis, Ichthyosis, and Deafness Syndrome." Otolaryngology–Head and Neck Surgery 104, no. 4 (1991): 526–28. http://dx.doi.org/10.1177/019459989110400417.

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Miteva, Ljubka. "Keratitis, Ichthyosis, and Deafness (KID) Syndrome." Pediatric Dermatology 19, no. 6 (2002): 513–16. http://dx.doi.org/10.1046/j.1525-1470.2002.00222.x.

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Mazereeuw-Hautier, J. "Syndrome de keratitis-ichthyosis-deafness (KID)." Annales de Dermatologie et de Vénéréologie 135, no. 1 (2008): 80–82. http://dx.doi.org/10.1016/j.annder.2007.11.013.

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Dissertations / Theses on the topic "Keratitis-ichthyosis-deafness"

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Lee, Ming Yang. "Allele-specific siRNA therapy for keratitis-ichthyosis-deafness syndrome." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10052698/.

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Dominant mutations in the gene GJB2 cause keratitis-ichthyosis-deafness (KID) syndrome, a severe condition affecting the skin, cornea and inner ear. GJB2 encodes the protein connexin-26 (Cx26) which forms hemichannels or gap junction channels allowing the passage of signalling molecules. Approximately 80% of KID syndrome patients carry a c.148G > A (p.D50N) mutation in GJB2, which results in aberrant channel function. We hypothesised that silencing of the mutant allele in patient keratinocytes using allele-specific siRNA could correct the channel function. First, to confirm whether patient ker
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Book chapters on the topic "Keratitis-ichthyosis-deafness"

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Orozco-Covarrubias, Luz, Marimar Saez-De-Ocariz, Carola Durán-McKinster, and Ramón Ruiz-Maldonado. "Kid Syndrome (Keratitis-Ichthyosis-Deafness)." In Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_40.

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Traupe, Heiko. "Not an Ichthyosis at All: the Keratitis, Ichthyosis-like Hyperkeratosis, and Deafness (KID) Syndrome." In The Ichthyoses. Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-73650-6_21.

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Liu, Dongyou. "Keratitis–Ichthyosis–Deafness Syndrome." In Handbook of Tumor Syndromes. CRC Press, 2020. http://dx.doi.org/10.1201/9781351187435-42.

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"Palmoplantarkeratose mit Ichthyose: Keratitis-Ichthyosis-Deafness-Syndrom." In Referenz Dermatologie, edited by Ralf Ludwig and Wolf-Henning Boehncke. Georg Thieme Verlag KG, 2024. http://dx.doi.org/10.1055/f-0011-0017-b000000424.

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Conference papers on the topic "Keratitis-ichthyosis-deafness"

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Rodríguez, M., M. Aznar, S. Guijarro, and E. de la Plata. "4CPS-196 Wounds treatment in keratitis (and hystrix-like) ichthyosis deafness with topic mefloquine: a case report." In Abstract Book, 23rd EAHP Congress, 21st–23rd March 2018, Gothenburg, Sweden. British Medical Journal Publishing Group, 2018. http://dx.doi.org/10.1136/ejhpharm-2018-eahpconf.286.

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