Introduction Harlequin ichthyosis (HI) , also known as ' ichthyosis fetalis, ' is an autosomal recessive congenital disorder affecting the ABCA12 gene . It is the most severe type of ichthyosis. Mutations in the ABCA12 gene induce thickening of the keratin layer in the stratum corneum (hyperkeratosis) . It is further distinguished by thicker, dried "armor-like" plaques that resemble 'scales' and are separated by deep cracks that cover the whole body surface (Cover image) . Infants affected by HI are more susceptible to infection as the skin's protective barrier is compromised.
Etiology Fig 1: Pathophysiology of HI. Source: Archives of Dermatology ABCA12 is a lipid transporter protein that is found in keratinocytes. It is a part of the ATP-binding cassette transporter, which binds and hydrolyzes ATP to allow lipid molecules to pass across the extracellular membranes. The extracellular…
