Harlequin-type ichthyosis

characterized by a thickening of the upper layer of the skin in newborn fetuses

symptoms the skin contains massive, diamond-shaped scales, tends to have a reddish color
the eyes, ears, mouth, other appendages may be abnormally contracted
eyes - keratin builds up to limit childs movement, and skin tears when child flexes, causing bleeding, causing
the appearance around the eye area. (The mouth, which is also a fragile area, tears and bleeds also) The
eyelids are red because the eyelids flip out, resulting in bacterial infection. Eyes dry out and coagulate,
causing red blots.
Cracked skin in places where it normally folds can result in infection.
Harlequins are susceptible to changes in temperature. They do not exhibit normal heat loss, which can lead
to hyperthermia (high blood pressure). Respiration is restricted by the skin because of the pressure of
the dry skin on the lungs. This can lead to hyperventilation and respiratory failure. The patients are often
dehydrated because their skin does not keep moisture well.
Appearance diamond shape patterns similar to harlequin clowns in italian theater. Facial expressions are
similar also.
History:
The disease has been known since 1750
At least 100 cases have been reported worldwide in modern times. Race and gender does not seem to affect
occurrence.
Children with the disease may be more likely to have consanguineous parents (of same ancestry). Families
with more severe skin disease disorders have more risk of have a child with this disease.

Treatment
The disease is usually caused by dehydration, infection, restricted breathing and other causes. Most
common cause is systemic infection. Rarely do patients survive childhood.
U.S.A.
In San Diego a young man, Ryan Gonzlez, has this condition and has not only survived to adulthood but also
thrives as a triathlete.[4] His treatment involves dosing with isotretinoin (also known as Accutane), the
constant use of lotions to keep the skin supple, and use of a very high-caloric diet of at least 7,500
calories a day, including a nightly feeding tube of pure protein due to the constant shedding of his skin,
which is believed to shed ten to forty times faster than unaffected skin.