Harlequin ichthyosis is a severe form of congenital ichthyosis. It is a condition involving the skin that affects the physical appearance of the neonate at birth. Harlequin ichthyosis involves the severe thickening of the keratin layer of the skin. Because of this, there is a massive, plate-like scale and horny shell on the skin that also causes contraction deformities in the eyes, mouth and ears. The profound deformities in the skin reduce the protective skin barrier, which increases the risk for infection and metabolic abnormalities. The hyperkeratosis of the skin resembles a diamond or triangular shape pattern. The contractures in the mouth and eyes cause the skin to be pulled making the mouth very wide open similar to a clown’s smile. The eyes also extrude and allow microorganisms to enter because the eyelids are not able to protect them. The physical appearance of a newborn with the condition can be depicted in the following harlequin ichthyosis pictures.
From Dr. Bernice Krafchik
The cause of harlequin ichthyosis is associated with the genetic abnormality resulting in a defect on the lipid-transporter gene ABCA12 located on chromosome 2. It is an autosomal recessive trait, which can be passed to offspring.
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