The following information may help to address your question:
What is incontinentia pigmenti?
Incontinentia pigmenti (IP)
is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. Most people with IP have normal intelligence, but some have developmental delay
, intellectual disability
, and/or other neurological problems. IP is caused by mutations
in the IKBKG gene
and is inherited
in an X-linked dominant
Last updated: 7/29/2014
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: 10/5/2016
Does incontinentia pigmenti make the child have weight issues (my daughter is underweight for her age)?
We found very limited information on this topic in our search of the medical literature. This may indicate that most individuals with incontinentia pigmenti are not underweight for their age, however we recommend that you discuss this question with a genetic professional or other healthcare provider. Information on finding a genetic professional is provided below.
Last updated: 4/18/2011
Does incontinentia pigmenti affect any areas inside the body, such as internal organs?
The Incontinentia Pigmenti International Foundation outlines on their Web site how incontinentia pigmenti can affect the skin, teeth, nails, hair, eyes, nervous system, and breast:
Nervous system: http://www.ipif.org/nervous_system.html
In addition, incontinentia pigmenti can affect muscle and bone development. Signs and symptoms may include webbing of the fingers and toes
, differences in the size and/or length of a limb, shortening of arms and legs, short stature
, and spina bifida
In addition, there have been individual case reports of people with incontinentia pigmenti who also had congenital heart defects, intestinal lymphangiectasia, Behçet's disease, and sensorimotor polyneuropathy.
Given the frequent multisystem involvement, it is recommended that people with incontinentia pigmenti receive a careful head-to-toe clinical evaluation.
Last updated: 6/8/2011
She looks like her father, does this mean she may have inherited the condition from him?
While a person might look more like one parent than the other, we all inherit half of our genetic information from our mother and the other half from our father. Looking more like one parent does not indicate that a condition is more likely to have been passed from that parent.
Incontinentia pigmenti (IP) is inherited in an X-linked dominant
" because the IKBKG
gene is found on the X chromosome
(of which females have two, and males have one). In this form of inheritance females are much more commonly affected than males. This is because a single IP causing IKBKG
gene mutation is nearly always lethal in males.
A female with IP may have inherited the condition from her mother with IP or she could have inherited the condition as a result of a new mutation (i.e., de novo
mutation). Because signs and symptoms of IP can be subtle, an affected child's mother benefits from a careful evaluation, as it is possible for her diagnosis to have been missed.De novo
mutations occur for the first time in a family as a result of a new, randomly occurring, mutation. The mutation may have developed in the father's sperm, mother's egg, or occured soon after conception. There is nothing a parent could have done to cause this mutation nor is there anything they could have done to prevent it. Some studies have suggested that when IP occurs as a result of a de novo
mutation, the mutation occurs more frequently in the IKBKG
gene inherited from the father. The reason for this is not clear. One common cause of IP is a deletion
(11.7-kb) in the IKBKG
gene. De novo
mutations occur in around 65% of females with IP due to this mutation.
Last updated: 4/18/2011
How can I find a genetics professional in my area?
Last updated: 8/23/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
GARD Information Specialist
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