Incontinentia pigmenti

Common Name(s)

Incontinentia pigmenti, Bloch-Sulzberger Syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Incontinentia pigmenti" for support, advocacy or research.

Incontinentia Pigmenti International Foundation

IPIF is a voluntary non-profit organization guided by a Scientific Advisory Council. IPIF consists of patients, physicians, educators, parents, relatives and volunteers who are striving to take leadership in supporting research, education, and funding. IPIF is a source of reliable information and support for patients and families in the United States and worldwide. Its mission is to encourage and support research on IP, and to provide family support and education.

Last Updated: 5 May 2014

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Last Updated: 24 Nov 2009

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National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Incontinentia pigmenti" for support, advocacy or research.

Incontinentia Pigmenti International Foundation

IPIF is a voluntary non-profit organization guided by a Scientific Advisory Council. IPIF consists of patients, physicians, educators, parents, relatives and volunteers who are striving to take leadership in supporting research, education, and funding. IPIF is a source of reliable information and support for patients and families in the United States and worldwide. Its mission is to encourage and support research on IP, and to provide family support and education.

http://www.ipif.org/

Last Updated: 5 May 2014

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Last Updated: 24 Nov 2009

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National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Incontinentia pigmenti" returned 99 free, full-text research articles on human participants. First 3 results:

Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti.
 

Author(s): Jacob Basilius, Marielle P Young, Timothy C Michaelis, Ronald Hobbs, Glen Jenkins, M Elizabeth Hartnett

Journal: JAMA Ophthalmol. 2015 Sep;133(9):1067-72.

 

This report presents evidence from spectral-domain optical coherence tomography and fluorescein angiography of inner foveal structural abnormalities associated with vision loss in incontinentia pigmenti (IP).

Last Updated: 11 Sep 2015

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Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti.
 

Author(s): Carlos Augusto Moreira Neto, Ana Tereza Ramos Moreira, Carlos Augusto Moreira Jr

Journal: Arq Bras Oftalmol. ;77(1):47-9.

 

Incontinentia pigmenti (IP) is an X-linked dominant disorder affecting the skin, teeth, eyes, and central nervous system. Ocular changes are common and may lead to severe vision loss. We report on the ocular manifestations in two young girls with IP, with emphasis on the asymmetry ...

Last Updated: 31 Jul 2014

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Incontinentia pigmenti: report on data from 2000 to 2013.
 

Author(s): Francesca Fusco, Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito, Peppino Mirabelli, Maria Brigida Lioi, Matilde Valeria Ursini

Journal:

 

We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000-2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), ...

Last Updated: 8 Jul 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Incontinentia pigmenti" returned free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.