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Diseases

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.

Overview

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

References

  1. Incontinentia pigmenti. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/incontinentia-pigmenti. Accessed 4/18/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

3 question(s) from the public on Incontinentia pigmenti have been answered. See questions and answers. You can also submit a new question.

Basic 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.
  • Genetics Home Reference (GHR) contains information on Incontinentia pigmenti. This website is maintained by the National Library of Medicine.
  • The Incontinentia Pigmenti International Foundation Web site provides information on this topic. Click on the link above to view the information page.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about 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.

In Depth 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 Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
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.