Bloch-Sulzberger syndrome; Bloch-Siemens syndrome
Incontinentia pigmenti (IP) is a rare skin condition passed down through families. It affects the skin, hair, eyes, teeth, and nervous system.
IP is caused by an X-linked dominant genetic defect that occurs on a gene known as IKBKG.
Because the gene defect occurs on the X chromosome, the condition is most often seen in females. When it occurs in males, it is usually lethal in the fetus and results in miscarriage.
With the skin symptoms, there are 4 stages. Infants with IP are born with streaky, blistering areas. In stage 2, when the areas heal, they turn into rough bumps. In stage 3, the bumps go away, but leave behind darkened skin, called hyperpigmentation. After several years, the skin returns to normal. In stage 4, there may be areas of lighter colored skin (hypopigmentation) that is thinner.
IP is associated with central nervous system problems, including:
- Delayed development
- Loss of movement (paralysis)
- Intellectual disability
- Muscle spasms
People with IP may also have abnormal teeth, hair loss, and vision problems.
Exams and Tests
The health care provider will perform a physical exam, look at the eyes, and test muscle movement.
There may be unusual patterns and blisters on the skin, as well as bone abnormalities. An eye exam may reveal cataracts, strabismus (crossed eyes), or other problems.
To confirm the diagnosis, these tests may be done:
There is no specific treatment for IP. Treatment is aimed at the individual symptoms. For example, glasses may be needed to improve vision. Medicine may be prescribed to help control seizures or muscle spasms.
These resources can provide more information about IP:
How well a person does depends on the severity of central nervous system involvement and eye problems.
When to Contact a Medical Professional
Call your provider if:
- You have a family history of IP and are considering having children
- Your child has symptoms of this disorder
Genetic counseling may be helpful for those with a family history of IP who are considering having children.
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Thiele EA, Korf BR. Phakomatoses and allied conditions. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 45.