Recent Advances in Congenital Ichthyoses

In 2015, an update on congenital ichthyosis revealed that while the causative genes for many forms were known, there was still no curative treatment available. Recent genetic discoveries included mutations in desmosomal components causing overlapping clinical conditions such as peeling skin disease, and mutations in keratin 10 causing ichthyosis with confetti. The review highlighted the poor research evidence for ichthyosis treatments but noted the addition of N-acetylcysteine to treatment options and the potential of topical enzyme replacement therapy for individuals with TG1 deficiency. The expanding knowledge of phenotypes and genotypes in ichthyoses was improving clinical diagnosis and understanding of epidermal pathophysiology.