Article
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.
Acta dermato-venereologica - 1 Sept 2014
Diociaiuti Andrea, Fortugno Paola, El Hachem May, Angelo Corrado, Proto Vittoria, De Luca Naomi, Martinelli Diego, Boldrini Renata, Castiglia Daniele, Zambruno Giovanna
Abstract excerpt
Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diagnosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnosed as having...
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