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 follicularis with alopecia and photophobia syndrome form, there is another type where females are partially affected and another where females have full IFAP symptoms. The gene or genes causing this disease are not known. Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated. Ichthyosis follicularis with alopecia and photophobia syndrome IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. It is extremely rare: there were only 10 known cases (all male) in 1998. The main symptoms are given