Updates in Management of Congenital Ichthyosis

Congenital ichthyosis (CI) comprises a heterogenous group of genetic diseases affecting keratinization of skin, usually present at birth or appearing early in life. Nonsyndromic as well as syndromic forms of CI exist, with mutations in more than 50 genes identified to date. CI is characterized by extensive scaling, hyperkeratosis and often inflammation of the skin, often leading to significant impairment in quality of life. Treatment for CI is largely symptomatic as no curative therapy exist to date. Accurate diagnosis of congenital ichthyosis is essential for classification, prognostication, therapeutic options and genetic counselling, and is becoming increasingly feasible due to progresses in the field of genetics and DNA sequencing methods. In recent years, new advances in understanding the pathophysiology of CI have been made, alongside development of pathogenesis-based treatment brings forth a promising outlook for patients with CI in the near future.