Ichthyosis with Confetti: Clinics, Molecular Genetics and Management

September 2015 in “ Orphanet Journal of Rare Diseases ”

Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia, Giovanna Zambruno

ichthyosis with confetti KRT10 KRT1 somatic reversion ichthyosiform erythroderma hyperkeratosis ectodermal malformations retinoid therapy revertant cell therapy retinoids

Studysummary This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

Ichthyosis with confetti (IWC) was a rare genetic skin disorder characterized by confetti-like spots of healthy skin due to somatic reversion of KRT10 or KRT1 gene mutations. It presented at birth with generalized ichthyosiform erythroderma and was associated with features like hyperkeratosis and ectodermal malformations. Diagnosis relied on dermatologic evaluation, histopathological examination, and mutational analysis of KRT10 and KRT1 genes. Management included retinoid therapy to reduce scaling, but lacked controlled studies. The document discussed the potential of revertant cell therapy as a treatment, highlighting its success in other conditions and suggesting future research could explore this approach for IWC, while noting the risks associated with genetic mutations and cancer.

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