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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)
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Overview
Incontinentia pigmenti (IP) is a genetic condition affecting the skin and other body systems. Skin symptoms change with time, beginning with a blistering rash in infancy, followed by wart-like skin growths, which then become swirled grey or brown patches in childhood, to 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 fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence, however some have delayed development, intellectual disability, seizures, or other neurological problems. IP is caused by mutations in the IKBKG gene. It is inherited in an X-linked dominant fashion.[1]
References
- Incontinentia pigmenti. Genetic Home Reference. http://ghr.nlm.nih.gov/condition/incontinentia-pigmenti. Accessed April 18, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Incontinentia pigmenti have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. Click on the link to view the information.
- Genetics Home Reference (GHR) contains information on Incontinentia pigmenti. Click on the link to go to GHR and review the information.
- The Incontinentia Pigmenti International Foundation Web site provides information on this topic. Click on the link above to view the information page.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Incontinentia pigmenti. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Incontinentia pigmenti. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Stavrianeas NG, Kakepis ME. Incontinentia Pigmenti. Orphanet Encyclopedia. 2004.