Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities 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 and respiratory failure.
HOW IS HARLEQUIN ICHTHYOSIS DIAGNOSED?
Prenatal diagnosis of this disease could be done through a 2D, 3D and 4D ultrasonography. Physical examination at birth to determine and observe abnormalities in the skin and genetic testing can be used to diagnose this disease.
HOW IS HARLEQUIN ICHTHYOSIS TREATED?
The treatment of Harlequin Ichthyosis is limited and includes putting the baby in a humid environment, providing constant moisture and also keeping the place clean and hygienic to avoid infections. This is not a fatal problem but it reduces the lifespan of the infected child.
DID YOU KNOW?
With improved treatments it is now possible for some babies born with this disorder to survive to childhood and even adulthood.