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Article

Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2022

Kimura A, Miyauchi T, Peh J T, Yanagi T, Hasegawa S, Morita S, Ujiie H

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Share to Connexins
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PMID: 35398937
DOI: 10.1111/jdv.18135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report.PMID 35398937Read ↗

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

Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma.Semantic proximity Read ↗

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.Semantic proximity Read ↗

Extra-palmoplantar skin lesions of palmoplantar keratoderma with deafness caused by a mitochondrial mutation.Semantic proximity Read ↗

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.Semantic proximity Read ↗

Ichthyosis follicularis syndromes in patients with mutations in GJB2.Semantic proximity Read ↗

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Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.Semantic proximity Read ↗

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