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.
109 citations,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
6 citations,
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.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
9 citations,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
