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?
Diagnosis of the same is done by a general physician who would take some skin tests and genetic tests along with examining the skin.
HOW IS HARLEQUIN ICHTHYOSIS TREATED?
Dermatologists treat Harlequin Ichthyosis by keeping the skin moist at all times. The hard outer layer will peel off exposing the inner layers of dermis. Respiratory distress is common in this disease. Supportive care is required for managing such complications. Oral retinoids may be given to improve survival of the infant.