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Harlequin Ichthyosis

Harlequin Ichthyosis

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis.[1] Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. The affected neonate is born with a massive, horny shell of dense, platelike scale and contraction abnormalities of the eyes, ears, mouth, and appendages, as is shown in the images below.

Harlequin-type ichthyosis

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2 Comments

  1. This poor baby…its a skin disease that runs in families. That’s ONE reason relatives should not have children together. The chances of any baby getting a genetic disorder are much greater if BOTH parents have the same genes.

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