TLDR Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
The study reported a case of semidominant inheritance in a 2-year-old female with epidermolytic ichthyosis (EI) due to a homozygous G>A mutation in the KRT1 gene, resulting in the p.E182K amino acid substitution. Both parents, who were first-degree cousins, carried the mutation in a heterozygous state and had mild skin symptoms. This finding expanded the understanding of EI inheritance, suggesting that mild KRT1 mutations might cause common callosities, contrasting with previously known dominant and recessive patterns.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
