Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10

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 frequent...

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Veröffentlicht in:	Acta dermato-venereologica 2014-01, Vol.94 (5), p.579-582
Hauptverfasser:	Diociaiuti, Andrea, Fortugno, Paola, El Hachem, May, Angelo, Corrado, Proto, Vittoria, De Luca, Naomi, Martinelli, Diego, Boldrini, Renata, Castiglia, Daniele, Zambruno, Giovanna
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Diagnosis, Differential Early Diagnosis Exons Female Fluorescent Antibody Technique Humans Ichthyosiform Erythroderma, Congenital - diagnosis Ichthyosis - diagnosis Ichthyosis - genetics Inteins Keratin-10 - genetics Male Mutation
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