Keratitis, Ichthyosis, and Deafness (KID) Syndrome

A very rare, inherited,autosomal dominant multi-system disorder; fewer than 100 cases have ever been reported. It is characterized by keratitis, icthyosis (specifically erythrokeratoderma); and sensorineural deafness. The skin on the palms of the hands and soles of the feet as well as the nails may also be affected. Mutations in the GJB2 gene have been identified. OMIM: 148210

Also Known As:

KID syndrome; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Kid Syndrome, Autosomal Dominant

Networked: 69 relevant articles (2 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infections
2.	Deafness (Deaf Mutism)
3.	Keratitis
4.	Ichthyosis (Xeroderma)
5.	Hearing Loss (Hearing Impairment)

Experts

1.	White, Thomas W: 3 articles (12/2021 - 04/2015)
2.	Li, Leping: 2 articles (12/2021 - 04/2015)
3.	Sellitto, Caterina: 2 articles (12/2021 - 04/2015)
4.	Uitto, Jouni: 2 articles (11/2020 - 05/2012)
5.	Wang, Hong-Zhan: 2 articles (01/2020 - 04/2015)
6.	Contreras, Jorge E: 2 articles (01/2019 - 05/2015)
7.	García, Isaac E: 2 articles (01/2019 - 05/2015)
8.	Akiyama, Masashi: 2 articles (11/2018 - 05/2014)
9.	Takeichi, Takuya: 2 articles (11/2018 - 05/2014)
10.	Steijlen, Peter M: 2 articles (09/2012 - 08/2004)

Drugs and Biologics

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

1.	Acitretin FDA Link 11/01/2020 - "One of the patients was treated with acitretin with dramatic improvement in his skin findings, illustrating the role of oral acitretin in treatment of patients with KID syndrome. " 08/01/2002 - "Acitretin seems to be a promising new treatment in KID syndrome." 08/01/2002 - "KID syndrome: response to acitretin." 03/01/2015 - "We report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. " 01/01/2007 - "One case of keratitis ichthyosis deafness (KID) syndrome and two cases of bullous ichthyosiform erythroderma (BIE) were treated with systemic acitretin. "
2.	Connexin 26IBA 01/01/2023 - "Connexin 26 is expressed mainly in the cornea, the sensory epithelium of the inner ear, and in the skin keratinocytes, which are the three main target organs in KID syndrome. " 06/01/2022 - "The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26. " 07/01/2013 - "Keratitis, ichthyosis, and deafness (KID) syndrome is a rare genodermatosis associated with mutations in the connexin 26 gene. " 09/01/2008 - "A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?" 05/01/2007 - "KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2). "
3.	ConnexinsIBA 01/01/2020 - "Most cases of KID syndrome (86%) are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the GJB2 gene, encoding gap junction protein Cx26, which alters gating properties of Cx26 channels in a dominant manner. " 01/01/2018 - "Germline missense mutations in GJB2 encoding connexin (Cx) 26 have been found in keratitis, ichthyosis and deafness (KID) syndrome. " 05/01/2012 - "Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. " 05/01/2004 - "In contrast to other KID syndrome patients, molecular analysis of the connexin gene GJB2 did not disclose a pathogenic mutation, although the patient was homozygous for a common polymorphism (V27I) in the coding sequence of Cx26. " 03/01/2023 - "Keratitis ichthyosis deafness (KID) syndrome is a rare disorder caused by hemichannel (HC) activating gain-of-function mutations in the GJB2 gene encoding connexin (Cx) 26, for which there is no cure, or current treatments based upon the mechanism of disease causation. "
4.	Proteins (Proteins, Gene)FDA Link 05/01/2012 - "The phenotypic heterogeneity of KID syndrome, inexplicable according to our current understanding of these proteins, speaks to the complexity of the connexin system and its overlapping expression patterns in different tissues." 07/08/2015 - "The keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the gap junctional channel protein connexin 26 (Cx26), among them the mutation Cx26S17F. " 03/01/2015 - "Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. " 05/01/2008 - "Keratitis-ichthyosis-deafness (KID) syndrome most commonly results from a mutation in the gap-junctional protein connexin 26 (Cx26) gene, GJB2. "
5.	CalciumIBA 02/02/2016 - "Here, we demonstrated that Cx26I30N and D50Y mutations resulted in the formation of aberrant hemichannels that might result in elevated intracellular calcium levels, a process which may contribute to the hyperproliferative epidermal phenotypes of KID syndrome." 07/08/2015 - "Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F." 04/16/2010 - "Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation."
6.	Cyclosporine (Ciclosporin)FDA LinkGeneric 05/01/2002 - "Clinical experience using systemic Cyclosporin A (CsA) in the dermatological therapy of the KID syndrome differs. " 05/01/2002 - "[Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)]." 03/01/2007 - "Cyclosporine eye drops might also have utility in treating eye pathology of ocular rosacea, atopic keratoconjunctivitis, graft versus host disease, herpes keratitis, chronic sarcoidosis of the conjunctiva, conjunctival manifestations of actinic prurigo, keratitis of keratitis-ichthyosis deafness (KID) syndrome, and lichen planus-related kerato-conjunctivitis. "
7.	Fluconazole (Zonal)FDA LinkGeneric 07/01/2008 - "Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome." 12/01/1994 - "Oral fluconazole treatment of fungating candidiasis in the keratitis, ichthyosis and deafness (KID) syndrome."
8.	Ophthalmic Solutions (Eye Drops)IBA 01/01/2004 - "The impaired ocular surface regulating system might be a cause of corneal disease in KID syndrome and it can be treated by eye drops." 03/01/2007 - "Cyclosporine eye drops might also have utility in treating eye pathology of ocular rosacea, atopic keratoconjunctivitis, graft versus host disease, herpes keratitis, chronic sarcoidosis of the conjunctiva, conjunctival manifestations of actinic prurigo, keratitis of keratitis-ichthyosis deafness (KID) syndrome, and lichen planus-related kerato-conjunctivitis. "
9.	LipidsIBA 07/01/1992 - "These disorders include X-linked ichthyosis, lamellar ichthyosis, Sjögren-Larsson syndrome, KID syndrome, Refsum's disease, neutral lipid storage disease, chondrodysplasia punctata, and Richner-Hanhart syndrome. " 07/08/2015 - "Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F."
10.	DNA (Deoxyribonucleic Acid)IBA 02/01/2005 - "We clinically studied two cases of KID syndrome and extracted genomic DNA from peripheral blood. " 06/01/2002 - "Since the KID syndrome mutation abolishes an AspI restriction site, we were able to screen the patient's DNA by polymerase chain reaction and subsequent restriction enzyme analysis. "

Therapies and Procedures

1.	Cochlear Implantation 02/01/2010 - "The aim of this study was to explore the feasibility and procedure of cochlear implantation in patients with KID syndrome and to assess the genetic causes. " 06/01/2008 - "This is the very rare report about Cx expression in skins and cochlear implantation in KID syndrome." 02/01/2012 - "Patients with KID syndrome appear to be good candidates for cochlear implantation but may face significant skin-related problems which could disrupt successful post-operative habilitation. " 02/01/2012 - "The objective of this study was to describe long-term outcomes after cochlear implantation in keratitis-ichthyosis-deafness (KID) syndrome, often caused by GJB2 mutations, in the context of other reported cases. " 09/01/2009 - "Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases."
2.	Therapeutics 09/01/2007 - "Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad." 10/13/2007 - "We think that along with urgent ophthalmologic and otolaryngologic measures, simple topical therapies may improve skin condition in KID syndrome precluding the possible hazards of systemic retinoid therapy." 05/01/2002 - "Clinical experience using systemic Cyclosporin A (CsA) in the dermatological therapy of the KID syndrome differs. " 01/01/1992 - "Keratitis, ichthyosis, and deafness (KID) syndrome: management with chronic oral ketoconazole therapy." 05/01/2002 - "[Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)]."
3.	Hydrocolloid Bandages (Duoderm) 09/01/2003 - "We successfully treated cutaneous lesions on the soles of a patient with KID syndrome using hydrocolloid dressing."
4.	Stem Cell Transplantation 01/01/2019 - "To report our surgical experience with ocular surface stem cell transplantation (OSST) for limbal stem cell deficiency (LSCD) in the setting of keratitis-ichthyosis-deafness (KID) syndrome. "
5.	Rehabilitation 02/01/2012 - "Patients with KID syndrome appear to be good candidates for cochlear implantation but may face significant skin-related problems which could disrupt successful post-operative habilitation. "