Harlequin Ichthyosis is a very rare, incurable, genetic skin condition. In it, the skin grows far faster than normal. This condition is seen in individuals only when both parents carry the same defective gene. The chances of this are one in a million. However, the chance of these parents producing a harlequin child are 1 in 4.
In sufferers of Harlequin Ichthyosis, the whole body becomes completely encased in a very thickened, scaly suit of skin armor. The skin becomes very tight causing restriction of movement of the arms and legs and, particularly, the fingers and toes. The face is deformed, the eyelids are inverted, the ears are bound down, and the mouth is very tight. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.
The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.
Treatment
Unfortunately, there no known cure for Harlequin Ichthyosis and treatment is largely supportive. This involves optimizing fluid, electrolyte, and nutritional repletion, aggressive use of emollients, and environmental measures to decrease transepidermal water loss. Treatment of harlequin babies can be done with a battery of medication ranging from oral retinoids to antiseptics and topical paraffin ointments to soften the skin. In general, harlequin fetuses do not survive for long. There have been improvements in care, most notably the drug Isotrex.
Sources:
http://ghr.nlm.nih.gov/condition=harlequinichthyosis
http://www.mymultiplesclerosis.co.uk/misc/harlequin.html
