16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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.
6 citations
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January 2020 in “BMC Medical Genetics” This study investigated a large Pakistani family with 16 individuals affected by X-linked ichthyosis (XLI), including a rare occurrence of two homozygous female patients. The research identified a novel hemizygous nonsense mutation (c.287G > A; p.W96*) in exon 4 of the STS gene in all affected males, while the two affected females were homozygous for this mutation. Clinical manifestations included generalized dryness and scaling of the skin, with no extracutaneous features observed. The findings contributed to understanding the genetic basis of XLI, expanded the known mutational spectrum of the STS gene, and aided in the diagnosis of female carriers, providing valuable information for genetic counseling.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
10 citations
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January 2016 in “Dermatology” Psoriasis lesions have fewer and smaller oil glands, which might affect the condition's development.