Incontinentia Pigmenti

What is incontinentia pigmenti (IP)?

Incontinentia pigmenti (IP) is an X-linked dominant inherited (genetic) disorder. It is one of a group of neurocutaneous disorders. These types of disorders can affect the central nervous system, skin, eyes, teeth and skeletal system.

With IP, gene mutations lead to progressive skin rashes and lesions, the most common feature of the condition. Skin lesions may be present at birth or develop in the first few weeks of life.

There are four stages of these lesions:

• Vesicular: Red, blister-like lesions.
• Verrucal: Wart-like lesions.
• Hyperpigmentation: Slate-gray, blue or brown skin lesions distributed on the trunk and extremities (arms and legs) as irregular, marbled or wavy lines.
• Hypopigmentation: Pale, scar-like lesions.

These stages may occur in any sequence and even overlap.

In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator) which is involved in cell cycle regulation and programmed cell death. No cure has been found yet for IP.

What are complications caused by incontinentia pigmenti (IP)?

Neurological (brain) problems associated with IP include loss of brain tissue (cerebral atrophy), formation of small cavities in the central white matter of the brain, and loss of neurons in the cerebellar cortex.

Approximately 20% of children with IP will have delayed motor development, intellectual disability, muscle weakness or seizures. They may also have vision problems which include crossed eyes (strabismus), cataracts or severe vision loss. Dental problems include missing or peg-shaped teeth.

A related disorder called incontinentia pigmenti achromians is a condition shown by hypopigmented (light colored) swirls and streaks on the skin. Similar to IP, incontinentia pigmenti achromians may also be linked with neurological problems.

How is incontinentia pigmenti (IP) treated?

IP requires different approaches for treatment depending on the symptom:

• Skin lesions usually fade away by adolescence or adulthood without treatment.
• Neurological symptoms such as seizures, muscle weakness or muscle spasms may be treated by a neurologist with medication and/or medical devices.
• Decreased vision may be treated with corrective lenses, medication or surgery in severe cases.
• Dental problems can be treated by a dental health specialist.

What is the prognosis for incontinentia pigmenti (IP)?

Generally, most people with IP who didn’t suffer serious complications with IP as a newborn or through infancy can have normal life expectancy and lead a healthy life. The skin pigmentation usually fades and sometimes disappears completely.

For others, there may be neurological and physical problems. It’s best to talk with your healthcare provider or genetic counselor about your or your child’s best healthcare strategy with IP.

A note from Cleveland Clinic

Researchers are using genetic linkage studies to map the location of genes associated with neurocutaneous disorders like incontinentia pigmenti. Studies are being done to see how the development and function of the brain and nervous system are affected by genetic mutations. These studies contribute to a greater understanding of gene-linked disorders and may open promising new avenues of treatment.

Organizations

• National Organization for Rare Disorders (NORD).www.rarediseases.org
• National Eye Institute (NEI).https://www.nei.nih.gov/
• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).www.niams.nih.gov