- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
- Incontinentia pigmenti type 2 (formerly)
- Incontinentia pigmenti, familial male-lethal type
Your QuestionMy 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is incontinentia pigmenti?
- What is the long-term outlook for people with incontinentia pigmenti?
- Does incontinentia pigmenti make the child have weight issues (my daughter is underweight for her age)?
- Does incontinentia pigmenti 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?
- How can I find a genetics professional in my area?
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.
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.
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.
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:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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;