The Harlequin Effect in Newborns

The term harlequin refers to a clown or jester. Some newborns are born with defects that cause clown-like appearances in either skin coloring or facial distortions. In each of these conditions, the term "harlequin effect" takes on two different meanings. While any abnormal appearance in a newborn may be frightening, the harlequin baby with the clownish smile faces sure death if not treated promptly and comprehensively.

Appearance

• According to pediatrician Dr. Alan Greene, a harmless, temporary blood vessel defect occurs predominantly in low birth weight newborns. It appears as a visible line that starts on the face or torso and divides the baby's body in half. In addition, lower extremities become dark while the upper half of the body looks pale. The body looks like colorful patches on a harlequin costume. A much more frightening and potentially fatal defect in newborns is termed harlequin ichthyosis. The condition produces thick, skin plaques all over a newborn that effectively turn the eyelids inside out and stretch the mouth so much that the mouth mimics a clown's smile, hence the term harlequin.

Causes

• The harlequin effect that Dr. Greene refers to is caused by the slow development of blood vessels in a newly born baby. Underdeveloped blood vessels expand and contract dramatically as a reaction to changes in room temperature, the position a baby lies in or even the mood of a neonate. It usually begins after a neonate is laid on its side. Harlequin Ichthyosis, on the other hand, is actually a genetic defect derived from the inheritance of two autosomal recessive genes known as the ABCA12 gene. According to the Foundation for Ichthyosis and Related Skin Types, both parents have to carry the gene for it to be passed down to offspring.

Treatment

• Dr. Greene explains that pharmaceutical treatment for the Harlequin body line effect is not necessary or prescribed. He says that both repositioning the baby and the baby's involuntary muscle movements can reverse the distorted appearance. Harlequin ichthyosis, however, requires aggressive treatment to save the life of the baby. The skin plaques compromise the newborn's ability to retain fluid, keep a normal body temperature and breathe properly. Treatment includes antibiotics to prevent infection, tube feeding to counteract the constricted mouths, lubrication of the corneas, coverings for the eyes and incubator housing. Topical administration of etretinate loosens the scaly, skin plaques.

After-effects

• As babies' blood vessels develop, harmless harlequin effect patients eventually grow out of the disorder. During the development process, however, the color distortion may occur a few more times during the infant stage. Babies who survive harlequin ichthyosis often continue to suffer physical development delays while their brains function normally. Even as adults, their skin may display patches of scales over dry, inflamed skin, and hair may grow in scantily.