Incontinentia Pigmenti

• Incontinentia pigmenti, sometimes referred to as IP or Bloch-Sulzberger syndrome, is an unusual inherited disorder of skin pigmentation that is associated with abnormalities of the skin, teeth, bones, brain or spinal cord, and eyes.
• The exact cause of IP is not yet known.
• Incontinentia pigmenti is often diagnosed in affected newborns because of the presence of a characteristic rash.
• The skin changes often disappear with time, but an evaluation for nervous system and eye disturbances must be promptly initiated.

Incontinentia pigmenti usually occurs in females, as it is an X-linked (inherited from the mother on the X, or female, chromosome) dominantly inherited disease that is lethal in males. This genetic disease is carried on the X chromosome. Girls have two X chromosomes, and the abnormal gene on one X chromosome is "balanced" by the normal gene on the other X chromosome.

Males, who have only one X chromosome, do not generally survive intrauterine life if their X chromosome has the abnormal gene for IP because they lack the balancing second X chromosome that females have. Unless a passed-on gene spontaneously mutates, all mothers of girls with IP also have IP, although the extent and degree of organ involvement is extremely variable.

Eye abnormalities are present in about one-third of all people with incontinentia pigmenti (IP). They include disorders of the lens, optic nerve, retina, and muscles of the eyes. Approximately one-third of girls with IP have a turned eye. These girls should be examined by an ophthalmologist (a doctor who specializes in treating conditions of the eye) to help prevent more serious visual problems.

Most people with IP have normal vision, but some have a problem with the blood vessels in the back of the eye (retina). If this occurs, it usually only causes a problem with one eye. Girls with IP should have their eyes checked as soon as IP is diagnosed and then each month for the following few months. Afterward, their eyes should be checked every three months for their first year of life.

The retinal abnormalities in IP are due to the blockage of small blood vessels in the retina. This is similar, in some respects, to the retinal disorder that affects some premature newborns, although babies with IP are not usually born prematurely. These retinal abnormalities can lead to detached retinas and bleeding into the eye.

This blockage of small blood vessels also affects the brain, potentially causing seizures and other neurologic disorders. People with retinal disorders that result from IP are more likely to have brain disorders, and babies with brain abnormalities are more likely to have the retinal abnormalities of IP. These brain and eye abnormalities may not be present or recognizable at birth but may develop, sometimes rapidly, over the first few weeks of life.

Incontinentia pigmenti is often diagnosed in affected children when they are newborns because of the presence of a characteristic rash. Once incontinentia pigmenti is diagnosed, the baby should be promptly seen by an ophthalmologist (a doctor who specializes in treating conditions of the eye).

An ophthalmologist puts drops in the baby's eyes to dilate the pupils and then carefully examines the retina, especially the retinal periphery. If the ophthalmologist cannot fully see the whole retina, an additional examination with the baby under general anesthesia (EUA) may be advised.

Because brain damage is usually accompanied by retinal damage, people with retinal disease should also be examined for the presence of brain damage. People with seizures or other evidence of brain involvement should have more frequent retinal examinations, often under anesthesia. Using anesthesia offers the ophthalmologist optimal visualization of the peripheral retina.

The treatment for babies with incontinentia pigmenti should be focused on the potential for the rapid development of irreversible blindness rather than on the obvious skin changes. If the ophthalmologist finds retinal abnormalities prior to the development of retinal detachment or bleeding, laser or other surgical procedures can be performed to prevent visual loss. In addition, if retinal detachment is found early, surgical intervention can preserve the child's vision.

Parents need to understand that the skin blisters on children with incontinentia pigmenti are less important than the much more serious complication of the disease, which is destruction of the retina. Early diagnosis and therapy can prevent or slow down the progress of eye involvement by incontinentia pigment.

Although retinal detachment occurs only in a minority of babies with IP, this is a serious abnormality that can lead to blindness during their first few months of life. An individual's overall prognosis varies depending on the degree of visual impairment and nervous system involvement.