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2019 5
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Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies.
Miao H, Dong R, Zhang S, Yang L, Liu Y, Wang T. Miao H, et al. J Dtsch Dermatol Ges. 2021 Mar;19(3):341-350. doi: 10.1111/ddg.14389. Epub 2021 Jan 14. J Dtsch Dermatol Ges. 2021. PMID: 33448147 Review.
Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID) syndrome predispose to fungal infection. The diagnosis and treatment of fungal infections underlying ichthyoses are challenging. ...
Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID) syndrome predispose to fungal infection. The diagnosis an …
Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.
Cammarata-Scalisi F, Willoughby CE, Cárdenas Tadich A, Labrador N, Herrera A, Callea M. Cammarata-Scalisi F, et al. Dermatol Ther. 2020 Jul;33(4):e13507. doi: 10.1111/dth.13507. Epub 2020 Jul 4. Dermatol Ther. 2020. PMID: 32367610 Review.
Keratitis-ichthyosis-deafness (KID syndrome) is a syndromes ichthyoses that is clinically and genetically heterogeneous requiring early and long-term multidisciplinary monitoring of affected individuals. ...
Keratitis-ichthyosis-deafness (KID syndrome) is a syndromes ichthyoses that is clinically and genetically heterogeneous requir …
Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome.
Okmen F, Hortu I, Jafarova U, Imamoglu M, Ekici H, Ergenoglu AM. Okmen F, et al. J Obstet Gynaecol Can. 2020 Apr;42(4):504-506. doi: 10.1016/j.jogc.2019.06.005. Epub 2019 Aug 14. J Obstet Gynaecol Can. 2020. PMID: 31421982
BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder characterized by keratitis, ichthyosis, and deafness. ...
BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder characterized by keratitis, ichth …
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K, Bignotti S, Callea M, Cammarata-Scalisi F, Steger B, Armstrong D, Lagan M, Sinton J, Semeraro F, Kaye SB, Romano V, Willoughby CE. Mc Lean K, et al. Ophthalmic Genet. 2024 Feb;45(1):16-22. doi: 10.1080/13816810.2023.2258218. Epub 2024 Jan 26. Ophthalmic Genet. 2024. PMID: 37755702
BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome. METHODS: Four patients, aged 19 to 46, with keratitis-ichthyosis …
BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed …
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
Faghihi F, Khamirani HJ, Zoghi S, Kamal N, Yeganeh BS, Dianatpour M, Bagher Tabei SM, Dastgheib SA. Faghihi F, et al. Eur J Med Genet. 2022 Mar;65(3):104449. doi: 10.1016/j.ejmg.2022.104449. Epub 2022 Feb 7. Eur J Med Genet. 2022. PMID: 35144013 Review.
Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). The main phenotypic features of KIDA …
Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogeni …
Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.
Lee MY, Wang HZ, White TW, Brooks T, Pittman A, Halai H, Petrova A, Xu D, Hart SL, Kinsler VA, Di WL. Lee MY, et al. J Invest Dermatol. 2020 May;140(5):1035-1044.e7. doi: 10.1016/j.jid.2019.09.022. Epub 2019 Nov 6. J Invest Dermatol. 2020. PMID: 31705875 Free PMC article.
Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory, and cutaneous abnormalities, with major complications of infection and skin cancer. ...Our data provide an important proof-of-concept and model system …
Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory, and cutaneo …
Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome.
Lee Lenis T, Zhang W, Shibayama V, Al-Hashimi S, Aldave AJ, Deng SX, Fung SSM. Lee Lenis T, et al. Cornea. 2020 Nov;39(11):1446-1449. doi: 10.1097/ICO.0000000000002415. Cornea. 2020. PMID: 32618851
BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is characterized by a congenital triad of keratitis, ichthyosis, and deafness, and is most commonly associated with mutations in the gap junction protein beta 2 gene (GJB2) on chromosome 13q11-q12. ...Screenin …
BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is characterized by a congenital triad of keratitis, ichthyosis, and …
Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
Asgari T, Naji M, Mansouri P, Mahmoudi H, Zabihi M, Youssefian L, Mahdavi M, Naraghi ZS, Zeinali S, Vahidnezhad H, Uitto J. Asgari T, et al. Dermatol Ther. 2020 Nov;33(6):e14493. doi: 10.1111/dth.14493. Epub 2020 Nov 23. Dermatol Ther. 2020. PMID: 33136289
Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type allele only. ...One of the patients was treated with acitretin with dram …
Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both ca …
A Rare Case of KID Syndrome: The Use of Hydrosurgery and Strategies for Antiseptic Wound Care.
Kapila AK, De Baerdemaeker R, Bakal F, Hanssens V, Spinnael J, Hendrickx B, Zeltzer A, Hamdi M. Kapila AK, et al. Adv Skin Wound Care. 2019 Oct;32(10):1-6. doi: 10.1097/01.ASW.0000580480.86585.3a. Adv Skin Wound Care. 2019. PMID: 31567454
A 14-year-old girl with a history of keratitis-ichthyosis-deafness (KID) syndrome, a rare autosomal dominant condition, was referred to the Department of Plastic Surgery at Brussels University Hospital in June 2016 for progressively worsening inguinoperineal ulcerat …
A 14-year-old girl with a history of keratitis-ichthyosis-deafness (KID) syndrome, a rare autosomal dominant condition, was re …
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