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Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
J Physiol
January 2025
Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.
Here we characterize seven Cx30.3 gene variants (R22H, S26Y, P61R, C86S, E99K, T130M and M190L) clinically associated with the rare skin disorder erythrokeratodermia variabilis et progressiva (EKVP) in tissue-relevant and differentiation-competent rat epidermal keratinocytes (REKs). We found that all variants, when expressed alone or together with wildtype (WT) Cx30.
View Article and Find Full Text PDFThe genetic and molecular basis of a connexin-linked skin disease.
Biochem J
November 2024
Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.
Erythrokeratodermia variabilis et progressiva (EKVP) is a rare hereditary skin disorder characterized by hyperkeratotic plaques and erythematous patches that progressively worsen with age. This disorder has been associated with variants in three connexin encoding genes (GJA1, GJB3, GJB4) and four unrelated genes (KRT83, KDSR, TRPM4, PERP). Most cases of connexin-linked EKVP exhibit an autosomal dominant mode of inheritance, with rare autosomal recessive cases.
View Article and Find Full Text PDFProtean Cutaneous Manifestation Caused by ABCA12 variants: Erythrokeratodermia Variabilis-like Ichthyosis and Unique Palmoplantar Keratoderma.
Clin Exp Dermatol
November 2024
Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
ABCA12 is crucial for skin barrier function and traditionally linked to severe congenital ichthyosis, such as harlequin ichthyosis. However, its genotype-phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants.
View Article and Find Full Text PDFAdult-onset erythrokeratodermia variabilis (EKV) triggered by pregnancy and crash dieting: A rare case report.
J Pak Med Assoc
September 2024
Department of Dermatology, PNS Shifa Hospital, Karachi, Pakistan.
Article Synopsis
- Erythrokeratodermia variabilis (EKV) is a rare genetic skin condition that involves changing red patches and fixed thick areas of skin, typically starting in infancy.
- A case is presented where a patient experienced EKV symptoms for the first time as an adult, which worsened during pregnancy but improved spontaneously after childbirth.
- After trying a crash diet, the patient developed more persistent symptoms that didn't resolve on their own, but showed significant improvement with treatment using systemic retinoids.
A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia.
Br J Dermatol
October 2024
Dermatology Hospital, Southern Medical University, Guangzhou 510091, China.
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