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What Causes Harlequin Disease?

Harlequin Ichthyosis (HI) is a chronic, congenital dermatological condition that manifests while a child is still in utero. It is so rare that its rate of incidence is unknown.

  1. Genetic Mutation

    • In 2005, a researchers at Queen Mary's School of Medicine and Dentistry studied the families of 12 children born with Harlequin Ichthyosis. The research team discovered that the condition is a result of a mutation in the ABCA 12 gene that turn does not allow fats known as lipids to enter the top layer of the child's epidermis.

    Genetic Carriers

    • The parents of offspring suffering from Harlequin Ichthyosis each carry the mutated ABCA 12 gene. However, the parents do not exhibit signs or symptoms of the condition.

    Physical Presentation

    • The physical symptoms of a child with Harlequin Ichthyosis are present at birth. In lieu of skin, the child has thick, armor-like "plaques" that cover the body. The diamond-shaped presentation of these plaques gives the infant the appearance of a Harlequin clown.

    Other Features of Harlequin Ichthyosis

    • Infants with this condition are usually born premature. Children who survive Harlequin Ichthyosis may be short in stature. Abnormalities in the kidneys and lungs are noted.

    Early Risks of Harlequin Ichthyosis

    • While the survival rate of infants born with Harlequin Ichthyosis has increased, affected infants remain at risk for mortality due to complications resulting from premature birth, infection that enters through the skin, and dehydration.

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