Incontinentia pigmenti

How is incontinentia pigmenti inherited?

Incontinentia pigmenti (IP) is inherited in an X-linked dominant manner. The gene responsible for causing IP ( IKBKG ) is on the X chromosome (one of the two sex chromosomes), which is why the condition is "X-linked." The condition is dominant because in females, who have two X chromosomes, having a mutation in only one copy of the responsible gene is enough to cause the condition.

In males, who have only one X chromosome, most IKBKG mutations result in a total loss of the protein for which the gene provides instructions. Males don't have another X chromosome with a working copy of the gene. When there is no working copy of this gene, IP is lethal in early development. This is why so few males are born with IP. Males living with this condition may have an IKBKG mutation with a mild effect; a mutation in only some of the body's cells (mosaicism); or an extra copy of the X chromosome in each cell.

Some people with IP inherit an IKBKG mutation from a parent with the condition, while other cases are due to new mutations in the gene and occur in people with no history of the condition in their family. When a female with IP has children, each female child has a 50% (1 in 2) risk to inherit the mutated gene. If a male is conceived, there is a 50% risk to be unaffected and a 50% risk to be affected and likely miscarry.

Last updated on 05-01-20

What is the long-term outlook for people with incontinentia pigmenti?

Life expectancy is considered to be normal for people with incontinentia pigmenti (IP) who did not develop significant complications in the newborn period or in infancy. Newborns with IP who develop seizures and people with significant neurological involvement may have a worse prognosis. In these cases, it is best to obtain information on prognosis and life expectancy from the affected person's physician.

Last updated on 05-01-20

How might incontinentia pigmenti be treated?

There is no specific treatment for incontinentia pigmenti. Treatment is aimed at addressing the specific symptoms seen in each individual. This might include standard management of blisters and skin infections, addressing dental problems and the associated speech and/or feeding problems, monitoring for retinal detachment and treating neovascularization with cryotherapy and laser photocoagulation, and addressing neurological symptoms such as seizures, muscle spasms or mild paralysis with medications or medical devices.

Last updated on 05-01-20

Social Networking Websites

Incontinentia pigmenti

The Incontinentia Pigmenti International Foundation maintains a Family Chat Room where you can connect with other families with loved ones with IP. Click on the link above to visit the chat room.

Last updated on 04-27-20

Name: National Foundation for Ectodermal Dysplasias 6 Executive Drive Suite 2
Fairview Heights, IL, 62258-1360, United States
Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: Url:
Name: The Ectodermal Dysplasia Society Unit 1 Maida Vale Business Centre Leckhampton
Cheltenham Gloucestershire GL53 7ER
United Kingdom
Phone: +44 (0) 1242 261332 Email: Url:
Name: Incontinentia Pigmenti International Foundation 30 East 72nd Street
New York, NY, 10021 , United States
Email: Url:
Name: Canadian Ectodermal Dysplasia Syndromes Association CEDSA 124 Lochiel Street
Renfrew, Ontario K7V 1W7, Canada
Phone: +1-613-432-9732 Email: Url:
Poziomczyk CS et al.,. Incontinentia pigmenti An Bras Dermatol. Jan-Feb 2014; 89(1). 26-36. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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