Incontinentia Pigmenti

Incontinentia pigmenti is usually a skin disease that affects women. However, it can also target men.

Incontinentia pigmenti starts at an early age and the skin problems persist during childhood until the early part of adult life. Many people who suffer from it have a rash with blisters since they are born, which continues during infancy. Later, the rash heals but growths similar to warts emerge on the skin. Further symptoms are swirled-shaped patches of grey or brown skin, known as hyperpigmentation. Into adulthood, this becomes hypopigmentation, or lines of skin with a tone lighter than normal, found on the arms or legs.

What are the symptoms of incontinentia pigmenti?

Incontinentia pigmenti has multiple symptoms but the most important ones affect the skin. Skin problems appear on the arms or legs in the form of lines or the trunk in a swirling pattern. However, they can also show up on the scalp or the face. Four separate stages of the lesions can be identified.

The condition's first stage starts in infancy or can even be present since birth and it can last a few weeks or months. It usually affects the scalp or the body's extremities and looks like inflamed or red patches of skin, a condition known as erythema, as well as the appearance of boils and blisters in the same area. Over the course of a year, incontinentia pigmenti can return, especially when there is another infectious disease that causes fever.

The second stage can also be present since birth and run at the same time as the first. The blisters from the first phase change their shape and resemble warts. The skin also starts to develop other symptoms, with zones with a darker pigmentation than normal and areas where the skin is healing and the lesions turn into thick crusts. It also lasts for a few months, usually less than one year, and almost always affects only the extremities.

In very rare cases, the third stage is also encountered since birth. Usually, it happens in early infancy, between the ages of 6 months and one year. The main symptom in this phase is hyperpigmentation, which causes the skin to become darker. The affected areas don't have to be the same as in the first two phases. It creates various strange patterns, for example the one on the trunk resembles a marble cake. Pigmentation is heavy at the beginning and then starts to decrease in time, even resulting in some situations in streaks of hypopigmentation, which is a lighter tone than usual.

The last phase is named the atrophic one. It can overlap with the others and even start before the third stage. It causes skin scars, which fade in time. The scars looks like zones or lines with a pale tone, lacking hair. During the teen years and adulthood, these scars fade more and more until they become almost invisible. By adult age, they are usually barely noticeable at all.

Besides the skin issues, incontinentia pigmenti has other symptoms as well. In over half of the recorded cases, the teeth are affected as well, in various ways. Sometimes the primary teeth emerge later than normal, while in other cases they have an unusual shape, which can resemble a peg or a cone. Other possible problems include microdontia, which is the small size of teeth, or anodontia, the complete lack of primary and secondary teeth.

Incontinentia pigmenti can also affect the nails. These usually have a rough or irregular surface, with unusual thickness, ridges or pits. In more severe cases, the nails hurt due to growths located under them, or the nails can be absent.

In about half of the number of incontinentia pigmenti cases, the condition causes patches of baldness on the scalp. These are located where the scars from one of the first two stages persist. The hair can also be affected in general, lacking the normal luster or having a rough texture.

Incontinentia pigmenti also leads to eye issues in about one third of recorded cases. These tend to be very serious and usually cause the membrane that lines the eyes to have blood vessels that do not develop normally. The first signs appear in childhood, before the age of five, and have to be closely monitored since a problem detected early can be treated with success. If ignored, the consequence can be the detachment of the retina, with devastating effects, from permanent eye damage to complete blindness. In rare cases, the disease can also cause one of the eyes to stop growing and remain small.

The nervous system is rarely impacted by the disease but the effects can be severe. The side effects of the disease include extremely serious neurologic problems, such as congenital or neonatal strokes. Seizures are also possible, caused by random electrical events inside the brain. Around one in three kids who suffer from incontinentia pigmenti have a type of neurological problem, which can be an intellectual handicap, late development of the motor functions or weak muscles, sometimes found on just one half of the body.

What are the causes of incontinentia pigmenti?

Incontinentia pigmenti is transmitted genetically and usually affects females, being inherited on the X chromosome or the female one. Diseases of the X chromosome are usually lethal for males. The reason why females survive is that they have two X chromosomes. The normal X chromosome is able to compensate for the faulty gene on the other one, which would normally kill a male.

Without the second X chromosome to balance the one with a wrong gene, males rarely survive in the uterus. Males only have one X chromosome, the second being a Y one. Usually, a mother with incontinentia pigmenti will pass the disease to her daughter. However, the symptoms are not always the same and in rare cases the disease is not inherited but caused by a random mutation.

Treatment options

Babies who suffer from incontinentia pigmenti should be monitored and treated for the eye symptoms that can cause permanent blindness. The very visible skin lesions can be ignored, since they are not a serious health problem. Any retinal fault detected by the ophthalmologist must to be treated before it causes serious damage. If detected in time, retinal detachment can be corrected through surgery, either a classic procedure or a laser intervention.

The potential destruction of the retina is the real risk of this disease and parents must focus on it, instead of the obvious skin problems. Monitor your child at all times, since early detection greatly increases the chance of effective eye treatment and complete recovery.