Incontinentia pigmenti is a genetic disorder that affects the skin, causing rashes and other symptoms. In some cases, this condition may also cause other complications, like mild to severe neurological difficulties.

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Incontinentia pigmenti (IP) is a rare genetic condition that may affect an individual’s:

  • skin
  • teeth
  • eyes
  • skeletal system
  • central nervous system.

There are four stages of IP, the first of which may be notable at birth.

Here’s what to know about IP, including its symptoms and treatments that may help.

IP is considered an inherited ectodermal dysplasia. “Ecto” and “derm” mean outside skin, and “dysplasia” means abnormal growth. Fewer than 5,000 people in the United States have IP, so it is quite rare.

IP is caused by mutations in the IKBKG gene. It’s inherited in an X-linked dominant manner. This means that both people with XY chromosomes (males) and people with XX chromosomes (females) can be affected.

However, the reported cases of this condition are more commonly seen in females, at a ratio of 20-to-1.

Language matters

In this article, we use the terms “male” and “female” to refer to someone’s sex as determined by their chromosomes, not their gender.

The research cited uses the term “male” to indicate individuals with XY chromosomes and the term “female” to indicate individuals with XX chromosomes, and the genetic causes of incontinentia pigmenti are directly related to the X chromosome.

A person’s gender identity may differ from the sex they were assigned at birth.

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Symptoms of IP may show up shortly after birth. Symptoms can vary from mild to severe. Likewise, symptoms may affect a person’s skin only or they may affect their skin, eyes, teeth, and neurological system.

There are four stages of incontinentia pigmenti skin symptoms that may overlap. These include:

Stage 1 (Vesicular)

This stage is called the vesicular stage because it involves round, blister-like sores called vesticles. This blistering rash generally affects the arms, legs, and scalp but may affect other areas of the body.

Called lines of Blaschko because the blisters form lines on the body, the blisters are often present at birth or within the first 2 weeks of life. They may last for weeks or a few months.

Stage 2 (Verrucous)

This stage is called the verrucous stage because it involves wart-like growths called verruca. These growths may leak pus and form thick or crusty scabs. While these sores may be present at birth, they often develop after stage 1 symptoms and may last for months. They are generally gone within a year.

Stage 3 (Hyperpigmented)

This stage is called the hyperpigmented stage because a person’s skin becomes darker than what is typical for them. Skin becomes darker in affected areas and may appear as darker shades of red, blue-gray, or brown.

The affected areas may appear as a swirled pattern, which may be present at birth or may appear within the first few months of life. These darker swirls may or may not be in the same areas affected in stages 1 and 2. They are likely to fade as a person ages.

Stage 4 (Atrophic or hypopigmented)

This stage is called the atrophic or hypopigmented stage because it may involve scarring, shrinking of tissues, and lightening of skin color in the affected areas. Skin may have light, hairless areas that generally appear during adolescence and may persist into adulthood.

Additional signs and symptoms

Other signs and symptoms of incontinentia pigmenti may include:

Since symptoms of IP may be noticeable soon after birth, diagnosis can begin with a physical exam and evaluation of family health history.

Genetic testing — which involves a simple blood test — can confirm if there is a mutation within the IKBKG gene, the only gene identified with IP. Approximately 85% of people with IP have some type of mutation within the IKBKG gene.

Skin biopsy is another option to confirm the diagnosis in females.

Symptoms and complications can be treated individually, with help from a primary care doctor. Dermatologists, neurologists, ophthalmologists, or dentists may provide more specialized care.

A doctor may recommend specific treatment options for the following IP-related issues:

  • Skin issues: Keeping the skin clean can help avoid infection. Rashes and lesions may clear up on their own by adulthood.
  • Neurological issues: A doctor may prescribe medications to manage seizures and muscle spasms. Learning issues may be addressed with therapies and school support.
  • Eye issues (retinal detachment): Cryotherapy or laser photocoagulation can be appropriate treatments for retinal detachment.
  • Dental issues: A doctor may recommend implants for missing teeth. A speech-language pathologist can help with dental issues that affect speech or eating.
  • Hair issues: While hair issues may not need specific treatment, a dermatologist can help provide more individualized treatment.

One of the most serious complications of IP is congenital or neonatal stroke. This happens when a baby has a stroke in the womb or shortly after birth. Likewise, a condition called cerebral atrophy (loss of brain tissue) may also affect some people.

Other serious complications include an increased risk of skin infections and blindness caused by retinal detachment.

Females have a higher risk of developing IP, at a ratio of 20-to-1. That said, males who have IP tend to have more severe symptoms. In fact, many male fetuses do not survive pregnancy.

In reproduction, males, who have XY chromosomes, can only pass the disorder to their female offspring (100% chance). Females, who have XX chromosomes, can pass the disorder to male offspring (50% chance) and female offspring (50% chance).

People with mild IP may not experience serious complications. Many have a normal life expectancy. Skin issues at infancy and during childhood may fade as a person gets older.

People with a more severe form of IP may need support to address neurological issues, learning disabilities, and other complications. Working with a team of doctors in different specialties can help improve an individual’s quality of life.

Is there a cure for IP?

No. IP is an inherited condition that is caused by issues with the IKBKG gene. It cannot be cured.

What are the 4 stages of incontinentia pigmenti?

The first stage (vesicular) involves blisters with redness. The second stage (verrucal) involves wart-like growths. The third stage (hyperpigmentation) involves dark-colored skin lesions. The fourth stage (hypopigmentation) involves light-colored lesions.

What ethnicities are affected by IP?

According to the National Organization for Rare Disorders, IP affects people of all races and ethnicities.

IP is a rare condition that affects each individual differently. Mild cases do not lead to complications. A doctor can provide more individualized treatment for severe cases.

The National Foundation for Ectodermal Dysplasias is a source of additional support for people with incontinentia pigmenti.