The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
September 2014
in “
JAMA dermatology
”
Studysummary This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
The study on Ichthyosis with Confetti (IWC) in 7 patients from Italy and Switzerland identified novel phenotypes and major diagnostic criteria, such as ear malformations, mammillae hypoplasia, and dorsal acral hypertrichosis. Genetic analysis revealed several frameshift mutations in the KRT10 gene, with healthy skin patches resulting from loss of heterozygosity. Two novel polymorphisms in KRT10 were also found among 17 control individuals. The research highlighted the syndromic nature of IWC, suggesting reclassification as a genetic syndrome, and showed that systemic acitretin improved symptoms in most patients. The study provided new insights into the genetic and phenotypic spectra of IWC and its underlying mechanisms.
