Incontinentia pigmenti (IP)

What happens in this disease?

The disease is caused by a change in the IKBKG gene. This gene protects cells against some harmful signals. In girls, some cells are healthy and some are affected. This is why skin changes appear in lines and swirls. The small blood vessels in the eyes and brain can also be affected.

Which symptoms can occur?

Skin symptoms change in stages over the years.

• A blistering rash at birth or in the first months
• Later, raised wart-like patches
• Swirl-shaped grey-brown patches; they fade over time
• Pale lines on the arms and legs in adults
• Missing or small teeth
• Hair loss and nail problems
• Blood vessel problems in the retina and a risk of vision loss (in some people)
• Seizures or developmental delay (sometimes)

How is it diagnosed?

The diagnosis is usually made from the typical skin findings. If needed, a genetic test of the IKBKG gene is done. The baby's eyes are examined often by an eye doctor in the first years. Because the disease can be mild, examining the mother is also recommended.

Treatment and care

The skin findings usually clear up on their own. The skin is kept clean and infection is prevented. Blood vessel problems in the retina can be treated with freezing or laser. Seizures and nervous system problems are followed by a child neurologist. A children's dentist is needed for dental problems; implants can be done in childhood. Developmental support and special education may be needed. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Incontinentia pigmenti is passed on through X-linked dominant inheritance. In about 65 percent of patients, the gene change is new. For an affected mother, the chance of passing on the gene in each pregnancy is 1 in 2. Male babies who get this gene are usually lost before birth. This is why most patients are girls. Genetic counselling and testing options during pregnancy can be discussed.