Harlequin-type ichthyosis Harlequin-type ichthyosis Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth. The skin forms large, diamond-shaped plates that are separated by deep cracks. They affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties. These plates fall off over several weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration. Harlequin-type ichthyosis is due to mutations of the "ABCA12" genes. It is inherited from a person's parents in an
Ichthyosis prematurity syndrome Ichthyosis prematurity syndrome Ichthyosis prematurity syndrome (IPS) is a dermatological disease with known genetic causes. This syndrome is a rare subcategory of autosomal recessive congenital ichthyosis (ARCI). It is associated with complications in the mid-trimester of a pregnancy leading to premature births. Although most prevalent in individuals of Scandinavian origin, there have also been scattered cases in people of Japanese, Italian and Indian ethnicity. This disorder is also referred to as ichthyosis congenital type IV. The symptoms associated with the disorder are often confused for other dermatological disorders. The symptoms below are ones specifically associated with IPS. Pregnancies that have