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Keratitis-Ichthyosis-Deafness Syndrome

Also Known As:

Keratitis, Ichthyosis, and Deafness

Networked: 42 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Eye Diseases: 3522
- Corneal Diseases: 916
  - Keratitis: 6776
    - Keratitis-Ichthyosis-Deafness Syndrome: 42

Related Diseases

1.	Squamous Cell Carcinoma (Epidermoid Carcinoma)
2.	Keratitis
3.	Ichthyosis (Xeroderma)
4.	Deafness (Deaf Mutism)
5.	Pityriasis Lichenoides (Pityriasis Lichenoides et Varioliformis Acuta)

Experts

1.	White, Thomas W: 4 articles (12/2021 - 09/2004)
2.	Richard, Gabriele: 4 articles (05/2016 - 11/2004)
3.	Sellitto, Caterina: 3 articles (12/2021 - 04/2015)
4.	Li, Leping: 2 articles (12/2021 - 04/2015)
5.	Lilly, Evelyn: 2 articles (01/2019 - 02/2016)
6.	Milstone, Leonard M: 2 articles (01/2019 - 02/2016)
7.	García, Isaac E: 2 articles (03/2016 - 05/2015)
8.	González, Carlos: 2 articles (03/2016 - 05/2015)
9.	Jara, Oscar: 2 articles (03/2016 - 05/2015)
10.	Martínez, Agustín D: 2 articles (03/2016 - 05/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Keratitis-Ichthyosis-Deafness Syndrome:

1.	ConnexinsIBA 12/16/2021 - "Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome." 05/01/2011 - "Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). " 09/01/2008 - "We propose that the findings observed in our patients are a distinct subtype of Keratitis-ichthyosis-deafness syndrome, thus expanding the spectrum of connexin-associated keratodermias." 06/01/2008 - "Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome." 01/01/2011 - "Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?"
2.	Connexin 26IBA 01/01/2017 - "Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26." 05/01/2016 - "Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation." 05/01/2012 - "Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings." 05/01/2007 - "Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients." 08/01/2006 - "Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome."
3.	Proteins (Proteins, Gene)FDA Link 01/01/2019 - "Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E." 09/01/2004 - "This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad."
4.	CalciumIBA 03/01/2016 - "From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome." 02/01/2016 - "In keratitis-ichthyosis-deafness syndrome, different connexin 26 mutations can either form dominant hemichannels with altered calcium regulation or increased calcium permeability, leading to clinical subtypes of this syndrome. "
5.	Alitretinoin FDA Link 08/01/2011 - "Keratitis-ichthyosis-deafness syndrome: response to alitretinoin and review of literature." 07/06/2013 - "Successful treatment with alitretinoin of dissecting cellulitis of the scalp in keratitis-ichthyosis-deafness syndrome."
6.	Keratin-17 (Keratin 17)IBA 04/01/2012 - "Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome."
7.	Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link 01/01/2009 - "Multiple Scalp Lesions in a Patient with Keratitis, Ichthyosis and Deafness Syndrome Mimicking Metastatic Squamous Cell Carcinoma on 18F-FDG PET/CT."
8.	Connexin 43 (Connexin43)IBA 05/01/2015 - "Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43."
9.	Mefloquine (Lariam)FDA LinkGeneric 04/01/2015 - "Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine."
10.	Ketoconazole (Nizoral)FDA LinkGeneric 09/27/2023 - "In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. "

Therapies and Procedures

1.	Cochlear Implantation 01/01/2023 - "Cochlear implantation in child with keratitis-ichthyosis-deafness syndrome: A case report." 01/01/2017 - "Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases." 02/01/2012 - "Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients." 02/01/2010 - "A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation." 06/01/2008 - "Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome."
2.	Therapeutics 05/15/2016 - "Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report." 09/27/2023 - "In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. "
3.	Hydrocolloid Bandages (Duoderm) 09/01/2003 - "Marked hyperkeratosis of the soles in keratitis-ichthyosis-deafness syndrome: treatment with hydrocolloid dressing."
4.	Stem Cell Transplantation 01/01/2019 - "Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome."
5.	Lenses 09/01/2018 - "Successfully Improving Visual Acuity in Keratitis-Ichthyosis-Deafness Syndrome Utilizing Gas-Permeable Lenses: A Case Report."