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Incontinentia pigmenti

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.

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Incontinentia pigmenti on the leg
Incontinentia pigmenti on the leg

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Causes

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.

Symptoms

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:

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:

Treatment

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.

Support Groups

These resources can provide more information about IP:

Outlook (Prognosis)

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:

Prevention

Genetic counseling may be helpful for those with a family history of IP who are considering having children.

Related Information

Genetics
Hair loss
Central nervous system
Vision problems
Secondary infections
Intellectual disability
Seizures
Muscle function loss
Muscle cramps
Walking abnormalities

References

Islam MP, Roach ES. Neurocutaneous syndromes. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 100.

James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Genodermatoses and congenital anomalies. James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 27.

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.

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Review Date: 4/16/2019  

Reviewed By: Michael Lehrer, MD, Clinical Associate Professor, Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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