Incontinentia pigmenti

Common Name(s)

Incontinentia pigmenti, Bloch-Sulzberger Syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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.

www.ipif.org

Last Updated: 6 Nov 2012

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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: 2 Jan 2013

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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.

Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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.

www.ipif.org

Last Updated: 6 Nov 2012

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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: 2 Jan 2013

View Details

 

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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 75 free, full-text research articles on human participants. First 3 results:

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.
 

Author(s): Francesca Fusco, Mariateresa Paciolla, Federico Napolitano, Alessandra Pescatore, Irene D'Addario, Elodie Bal, Maria Brigida Lioi, Asma Smahi, Maria Giuseppina Miano, Matilde Valeria Ursini

Journal: Hum. Mol. Genet.. 2012 Mar;21(6):1260-71.

 

IKBKG/NEMO gene mutations cause an X-linked, dominant neuroectodermal disorder named Incontinentia Pigmenti (IP). Located at Xq28, IKBKG/NEMO has a unique genomic organization, as it is part of a segmental duplication or low copy repeat (LCR1-LCR2, >99% identical) containing the gene ...

Last Updated: 23 Feb 2012

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[Incontinentia pigmenti. Four patients with different clinical manifestations].
 

Author(s): I Llano-Rivas, T Soler-Sánchez, I Málaga-Diéguez, J Fernández-Toral

Journal: An Pediatr (Barc). 2012 Mar;76(3):156-60.

 

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, ...

Last Updated: 9 Mar 2012

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Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.
 

Author(s): Rita Genesio, Daniela Melis, Sole Gatto, Antonella Izzo, Valentina Ronga, Gerarda Cappuccio, Ambra Lanzo, Generoso Andria, Maurizio D'Esposito, Maria R Matarazzo, Anna Conti, Lucio Nitsch

Journal: Epigenetics. 2011 Oct;6(10):1242-7.

 

Molecular mechanisms underlying aberrant phenotypes in balanced X;autosome translocations are scarcely understood. We report the case of a de novo reciprocal balanced translocation X;2(q23;q33) presenting phenotypic alterations highly suggestive of Incontinentia Pigmenti (IP) syndrome, ...

Last Updated: 2 Jan 2012

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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 9 free, full-text review articles on human participants. First 3 results:

Systematic review of central nervous system anomalies in incontinentia pigmenti.
 

Author(s): Snežana Minić, Dušan Trpinac, Miljana Obradović

Journal:

 

The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period ...

Last Updated: 20 Feb 2013

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Dental and oral anomalies in incontinentia pigmenti: a systematic review.
 

Author(s): Snežana Minić, Dušan Trpinac, Heinz Gabriel, Martin Gencik, Miljana Obradović

Journal: Clin Oral Investig. 2013 Jan;17(1):1-8.

 

Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by a mutation of the IKBKG gene. The objective of this study was to present a systematic review of the dental and oral types of anomalies, to determine the total number and sex distribution of the anomalies, and to analyze ...

Last Updated: 4 Jan 2013

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The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele.
 

Author(s): Ozgun Kaya Kara, Akmer Mutlu, Mintaze Kerem Gunel

Journal:

 

This study aimed to exhibit the effects of early physiotherapy and discusses post-treatment results on a patient with incontinentia pigmenti (IP) with encephalocele. Physiotherapy evaluations of the child included cognitive, fine and gross motor development assessed with the Bayley ...

Last Updated: 6 Jul 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.