Research & Literature

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Kutkowska-Kaźmierczak A, Niepokój K, Wertheim-Tysarowska K, et al.

Journal of applied genetics 2015; (56(3)):329-37 doi:10.1007/s13353-014-0266-1.

Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case.

Homeida L, Wiley RT, Fatahzadeh M

Oral surgery, oral medicine, oral pathology and oral radiology 2015; (119(4)):e226-32.

The supportive care needs of parents caring for a child with a rare disease: A scoping review.

Pelentsov LJ, Laws TA, Esterman AJ

Disability and health journal 2015; (8(4)):475-91.

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.

Markova TG, Brazhkina NB, Bliznech EA, et al.

International journal of pediatric otorhinolaryngology 2016; (81()):10-4.

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Dalamón VK, Buonfiglio P, Larralde M, et al.

BMC medical genetics 2016; (17(1)):37 doi:10.1186/s12881-016-0298-y.

Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.

Rodriguez-Paris J, Waldhaus J, Gordhandas JA, et al.

PeerJ 2016; (4()):e2494 doi:10.7717/peerj.2494.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, et al.

Orphanet journal of rare diseases 2016; (11(1)):168 doi:10.1186/s13023-016-0548-2.

Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome.

Calderón-Castrat X, Vega-Zuñiga J, Velásquez F, Ballona R

Pediatric dermatology 2017; (34(2)):201-203 doi:10.1111/pde.13069.

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia.

Serrano-Ahumada AS, Cortes-González V, González-Huerta LM, et al.

Cornea 2018; (37(2)):252-254 doi:10.1097/ICO.0000000000001387.

Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases.

Gumus B, Incesulu A, Pinarbasli MO

Case reports in otolaryngology 2017; (2017()):3913187 doi:10.1155/2017/3913187.

Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.

Bartenstein D, Chung HJ, Hussain S

The American Journal of dermatopathology 2018; (40(10)):e138-e141 doi:10.1097/DAD.0000000000001178.

Successfully Improving Visual Acuity in Keratitis-Ichthyosis-Deafness Syndrome Utilizing Gas-Permeable Lenses: A Case Report.

Strul S, Straughn P

Eye & contact lens 2018; (44 Suppl 1()):S330-S332 doi:10.1097/ICL.0000000000000328.

Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.

Taki T, Takeichi T, Sugiura K, Akiyama M

Scientific reports 2018; (8(1)):12824 doi:10.1038/s41598-018-30757-3.

More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.

Lilly E, Bunick CG, Maley AM, et al.

Journal of the American Academy of Dermatology 2019; (80(3)):617-625 doi:10.1016/j.jaad.2018.09.042.

"It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease.

Currie G, Szabo J

Child: care, health and development 2019; (45(1)):96-103 doi:10.1111/cch.12628.

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study.

Bose M, Mahadevan M, Schules DR, et al.

Molecular genetics and metabolism reports 2019; (19()):100459 doi:10.1016/j.ymgmr.2019.100459.

[Oral manifestations of KID syndrome: rare clinical case].

Korolenkova MV, Dmitrieva NA, Babichenko II, et al.

Stomatologiia 2019; (98(4)):93-95 doi:10.17116/stomat20199804193.

A Rare Case of KID Syndrome: The Use of Hydrosurgery and Strategies for Antiseptic Wound Care.

Kapila AK, De Baerdemaeker R, Bakal F, et al.

Advances in skin & wound care 2019; (32(10)):1-6 doi:10.1097/01.ASW.0000580480.86585.3a.

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.

Lee MY, Wang HZ, White TW, et al.

The Journal of investigative dermatology 2020; (140(5)):1035-1044.e7 doi:10.1016/j.jid.2019.09.022.

Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.

Cammarata-Scalisi F, Willoughby CE, Cárdenas Tadich A, et al.

Dermatologic therapy 2020; (33(4)):e13507 doi:10.1111/dth.13507.

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.

Asgari T, Naji M, Mansouri P, et al.

Dermatologic therapy 2020; (33(6)):e14493 doi:10.1111/dth.14493.

Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies.

Miao H, Dong R, Zhang S, et al.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2021; (19(3)):341-350 doi:10.1111/ddg.14389.

Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.

Cohen-Barak E, Mwassi B, Zagairy F, et al.

The Journal of dermatology 2022; (49(3)):379-382 doi:10.1111/1346-8138.16268.

The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome.

Xu Y, Wang M, Huang L, Hu J

Annals of dermatology 2022; (34(5)):382-386 doi:10.5021/ad.20.278.

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

López-Sundh AE, Escribano-Palomino E, Feito-Rodríguez M, et al.

American journal of medical genetics. Part A 2023; (191(1)):253-258 doi:10.1002/ajmg.a.63005.

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.

Kalezić T, Vuković I, Stojković M, et al.

Balkan journal of medical genetics : BJMG 2022; (25(1)):79-84 doi:10.2478/bjmg-2022-0014.

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.

Mc Lean K, Bignotti S, Callea M, et al.

Ophthalmic genetics 2024; (45(1)):16-22 doi:10.1080/13816810.2023.2258218.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial.

Tutus D, Niemitz M, Plener PL, et al.

Orphanet journal of rare diseases 2024; (19(1)):27 doi:10.1186/s13023-024-03029-9.

Calcium Regulation of Connexin Hemichannels.

Bayraktar E, Lopez-Pigozzi D, Bortolozzi M

International journal of molecular sciences 2024; (25(12)) doi:10.3390/ijms25126594.

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.

Maarouf S, Clark M, Chen A, Haggstrom A

Pediatric dermatology 2025; (42(2)):305-310 doi:10.1111/pde.15841.

Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management.

Montanari A, Caroppo F, Amabile A, et al.

Dermatology reports 2024; (16(4)):9953 doi:10.4081/dr.2024.9953.

Two cases of therapeutic scleral lenses for KID syndrome.

Gagliardi M, Asghari B

American journal of ophthalmology case reports 2025; (37()):102261 doi:10.1016/j.ajoc.2025.102261.

Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant.

Kaniganti T, Gean-Akriv G, Keidar T, et al.

Molecular genetics and metabolism 2025; (144(4)):109056 doi:10.1016/j.ymgme.2025.109056.

Assessing Hemichannel and Gap Junctional Channel Activities in HaCaT Keratinocyte Cells.

Inal E, Yildirim MA, Mese G

Methods in molecular biology (Clifton, N.J.) 2025; doi:10.1007/7651_2025_650.

Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report.

Gizzi G, Didona D, Pascolini G, et al.

Case reports in dermatology 2025; (17(1)):291-298 doi:10.1159/000546019.

Ophthalmologic management in KID syndrome: Long-term clinical experience.

Estévez-Domínguez R, Rocha-de-Lossada C, Rodríguez-Calvo-de-Mora M, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2025; (100(10)):625-629 doi:10.1016/j.oftale.2025.07.013.

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome With Topical Mefenamic Acid.

Gupta R, Ho A, Brichta L, Yan AC

Pediatric dermatology 2026; (43(1)):145-148 doi:10.1111/pde.70000.

Parental Experiences of Receiving a Rare Genetic Disease Diagnosis for Their Child on Diagnosis Day.

Bullock I, Malone KF, Turnwald A

American journal of medical genetics. Part A 2026; (200(1)):67-76 doi:10.1002/ajmg.a.64223.

Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Saleh TS, Poulsen T, Nyman JE

Journal of medical case reports 2025; (19(1)):431 doi:10.1186/s13256-025-05504-8.

Cochlear implantation in patients with keratitis-ichthyosis-deafness syndrome: A systematic review.

Pearce AN, Farsi S, Saadi CC, et al.

International journal of pediatric otorhinolaryngology 2025; (197()):112530 doi:10.1016/j.ijporl.2025.112530.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Al-Bustanji R, AlRababah BK, Rumman MSA, et al.

Medicine 2025; (104(47)):e45577 doi:10.1097/MD.0000000000045577.

Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin.

Caetano DG, Martins F, Soares J, Ramos LC

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-269396.

Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient.

Hajská M, Bittner Fialová S, Dubovský M, Panyko A

Journal of clinical medicine 2025; (15(1)) doi:10.3390/jcm15010011.

Expanding the Clinical Spectrum of KIDAR Syndrome: A Case of Multisystemic Involvement in a Palestinian Child with AP1B1 Deficiency.

Issa K, Dawoud AMY, Khader ZWR, et al.

Sage open pediatrics 2026; (13()):30502225261436884 doi:10.1177/30502225261436884.

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.

Altıner Ş, Gökpınar İli E, Yurtdaş AK, et al.

Journal of human genetics 2026; (71(8)):513-520 doi:10.1038/s10038-026-01476-9.

Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report.

Bourdil L, Georgia Blume C

Case reports in obstetrics and gynecology 2026; (2026()):5451804 doi:10.1155/crog/5451804.

The clinical and genetic landscape of junctional skin disorder in children: A scoping review.

Del Vecchio C, Nardacchione EM, Zupin L, et al.

Clinics in dermatology 2026; doi:10.1016/j.clindermatol.2026.09.014.

Beyond illness severity: transdiagnostic cognitive vulnerabilities as independent predictors of psychological distress in parents of children with rare genetic disorders.

Cuturilo G, Vukosavljevic Gvozden T, Gvozden M, et al.

Frontiers in psychiatry 2026; (17()):1963031 doi:10.3389/fpsyt.2026.1963031.