Incontinentia pigmenti (IP) is a genetic disorder with distinctive skin rashes and lesions seen at birth or within the first few weeks. The majority of children with IP don’t have complications and may be only mildly affected, if at all. But around 20% develop neurological problems that can range from mild to severe.
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:
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.
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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.
IP requires different approaches for treatment depending on the symptom:
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.
Last reviewed by a Cleveland Clinic medical professional on 06/02/2020.
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