The eyelids may be everted ( ectropion), which leaves the eyes and the area around them very susceptible to infection. The ears may be very poorly developed or absent entirely, as may the nose. Sufferers feature severe cranial and facial deformities. Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. It was first documented in a diary entry by Reverend Oliver Hart in America in 1750. The condition affects around 1 in 300,000 births. Children who survive the first year of life often have long-term problems such as red skin, joint contractures and delayed growth. Around half of those affected die within the first few months however, retinoid treatment can increase chances of survival. Treatments may include moisturizing cream, antibiotics, etretinate or retinoids. Early in life, constant supportive care is typically required. Before birth, amniocentesis or ultrasound may support the diagnosis. Diagnosis is often based on appearance at birth and confirmed by genetic testing. The disorder is autosomal recessive and inherited from parents who are carriers. This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin. Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. The condition is the most severe form of ichthyosis, a group of genetic disorders characterised by scaly skin. Other complications can include premature birth, infection, problems with body temperature, and dehydration. These plates fall off over several weeks. Restricted movement of the chest can lead to breathing difficulties. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks. Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. Ichthyosis congenita, Lamellar ichthyosis ĭeath in the first month is relatively common Very thick skin which cracks, abnormal facial features īreathing problems, infection, problems with body temperature, dehydration īased on appearance and genetic testing ![]() Harlequin ichthyosis, ichthyosis fetalis, keratosis diffusa fetalis, harlequin fetus, : 562 ichthyosis congenita gravior Medical condition Harlequin-type ichthyosis
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