16 citations
,
September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
7 citations
,
July 2014 in “BMJ case reports” This article reviews the rare skin disorder ichthyosis with confetti, highlighting the potential for future therapies using revertant stem cells, and reports no new clinical results.
August 2025 in “Biomedicines” In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.