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What is Incontinentia Pigmenti?

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  • Written By: Mary McMahon
  • Edited By: Kristen Osborne
  • Last Modified Date: 28 October 2018
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Incontinentia pigmenti is a genetic condition distinguished by large deposits of melanin. People with this condition have skin abnormalities along with changes to their skeletal systems, teeth, and central nervous systems. It is more common in women than men and is often fatal for men. A cure is not available, but there are a number of treatment options for managing complications of incontinentia pigmenti.

This condition is a dominant X-linked trait. People only need to inherit one copy of the defective gene to express the condition. In women, a healthy copy of the involved gene can be present on the other X chromosome, reducing the severity of the condition. In men, the corresponding area of the chromosome is missing as a result of the stunted size of the Y chromosome, and this condition is much more serious.

People with incontinentia pigmenti develop a blistering rash after birth. Over time, it turns into warts that fade into swirls, waves, and stripes of darkly pigmented skin. The skin pigmentation will fade as the child grows older. Some patients experience hair loss as a result of the skin changes. In addition, they can develop dental problems, seizures, and other neurological issues. Treatment for incontinentia pigmenti has to be customized for the patient, addressing specific needs as they arise in a given case.

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Also known as Bloch-Sulzberger syndrome, this condition needs to be thoroughly evaluated to learn more about how it affects the patient. Treatment options can include drugs to control seizures, vision aids to address vision problems, and dental care to deal with issues like underformed or pitted teeth. Patients may also experience cosmetic issues like ridged or lined nails and may find it helpful to work with nail and skin care specialists to get tips on caring for their bodies and get advice on steps they can take to address cosmetic issues.

A person with incontinentia pigmenti is at risk of passing the gene on to children and people may want to consider this when getting ready for pregnancy. The severity of the condition in the child may vary, depending on the precise mix of genes inherited. A genetic counselor can provide more information to parents about potential risks and may also offer genetic testing to check for signs of other genetic issues that may be a cause for concern. People need not rule out having children if they have this condition, but may want to take some time to consider the risks.

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