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, hyosis fetalis, ichthyosis fetalis, keratosis diffusa fetalis, harlequin fetus, : 562 ichthyosis congenita gravior Medical condition Harlequin-type ichthyosis
