3 citations
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July 2004 in “SKINmed/Skinmed” This case study describes a 4-year-old girl's diagnosis of erythrokeratodermia variabilis despite various ineffective treatments, highlighting a rare skin condition with persistent symptoms.
August 2025 in “International Journal of Research in Dermatology” This case report highlights an atypical presentation of acrodermatitis enteropathica in an 18-year-old male, exhibiting symptoms like erythrokeratoderma variabilis with a positive response to high-dose oral zinc, underscoring the importance of considering zinc deficiency in unusual skin conditions.
147 citations
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January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.