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Genetic and Rare Diseases Information Center (GARD)

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Incontinentia pigmenti


Other Names for this Disease

  • Bloch-Sulzberger syndrome
  • Incontinentia pigmenti type 2 (formerly)
  • Incontinentia pigmenti, familial male-lethal type
  • IP
  • IP2 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter has been diagnosed with incontinentia pigmenti. My questions are: Is there a life span on someone who has IP? Does IP make the child have weight issues (my daughter is underweight for her age)? Does IP affect any areas inside the body, such as internal organs? She looks like her father, does this mean she may have inherited the condition from him?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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, seizures, and/or other neurological problems. IP is caused by mutations in the IKBKG gene and is inherited in an X-linked dominant manner.[1]
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.[2] Newborns with IP who develop seizures and people with significant neurological involvement may have a worse prognosis.[3] In these cases, it is best to obtain information on prognosis and life expectancy from the affected person's physician.
Last updated: 4/18/2011

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:

Skin: http://www.ipif.org/skin.html
Teeth: http://www.ipif.org/teeth.html
Nails: http://www.ipif.org/nails.html
Hair: http://www.ipif.org/hair.html
Eyes: http://www.ipif.org/eyes.html
Nervous system: http://www.ipif.org/nervous_system.html
Breast: http://www.ipif.org/breast.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[4], intestinal lymphangiectasia[5], Behçet's disease[6], and sensorimotor polyneuropathy[7].

Given the frequent multisystem involvement, it is recommended that people with incontinentia pigmenti receive a careful head-to-toe clinical evaluation.[8]
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 fashion. "X-linked" 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.[2]

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.[2]
Last updated: 4/18/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

References
  • Incontinentia pigmenti. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/incontinentia-pigmenti. Accessed 4/18/2011.
  • Scheuerle A, Ursini MV. Incontinentia pigmenti: Bloch-Sulzbberger syndrome. GeneReviews. 1999; http://www.ncbi.nlm.nih.gov/books/NBK1472/. Accessed 4/18/2011.
  • Stavrianeas NG, Kakepis ME. Incontinentia pigmenti. Orphanet Encyclopedia. 2004; http://www.orpha.net/data/patho/GB/uk-incontinentia-pigmenti.pdf. Accessed 4/18/2011.
  • Miteva L, Nikolova A. Incontinentia pigmenti: a case associated with cardiovascular anomalies. Pediatr Dermatol. 2001 Jan-Feb;
  • Riyaz A, et al. Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. Indian J Pediatr. 2004 Oct;
  • Lin HK, Fu LS. Concurrence of Incontinentia Pigmenti and Behçet's Disease. J Chin Med Assoc. 2010 May;
  • Joy SP, Panda S, Kulkarni GB, Pal PK, Chickabasaviah YT, Battu RR. Incontinentia pigmenti with sensorimotor polyneuropathy: a novel association. Neurol India. 2009 Nov-Dec;
  • Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007 May;
Other Names for this Disease
  • Bloch-Sulzberger syndrome
  • Incontinentia pigmenti type 2 (formerly)
  • Incontinentia pigmenti, familial male-lethal type
  • IP
  • IP2 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.