Harlequin ichthyosis is a rare genetic skin disorder and is also known as Harlequin baby syndrome, Ichthyosis Congenita, Harlequin Fetus Type. 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. 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?
Paediatricians can diagnose Harlequin Ichthyosis through physical evaluation of the infant. Genetic testing is the most specific testing for Harlequin Ichthyosis.
HOW IS HARLEQUIN ICHTHYOSIS TREATED?
For neonates, providing a moist environment in an isolated place, preventing infection by hygienic handling and treating infection are paramount. The skin is kept hydrated soft and supple by Petrolatum-based creams and ointments. Humidification with long baths, lubrication and keratolytic agents such as alpha-hydroxy acid or urea preparations may be used to promote peeling and thinning of the stratum corneum. Topical salicylic acid preparations should be used very cautiously because of absorption.
DID YOU KNOW?
With improved treatments it is now possible for some babies born with this disorder to survive to childhood and even adulthood.