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

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.

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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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.

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

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.
 

Author(s): Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Francesca Fusco, Giovanni D'Antuono, Chiara Gelmini, Livia Garavelli, Matilde Valeria Ursini

Journal:

 

Studies suggest that genetic factors are associated with the etiology of learning disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder (1:10000/20:000) that affects the neuroectodermal tissues. ...

Last Updated: 3 Feb 2014

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A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.
 

Author(s): Rachel E Towers, Leonardo Murgiano, David S Millar, Elise Glen, Ana Topf, Vidhya Jagannathan, Cord Drögemüller, Judith A Goodship, Angus J Clarke, Tosso Leeb

Journal:

 

Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. ...

Last Updated: 10 Dec 2013

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Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report.
 

Author(s): Pernille A Gregersen, Mette Sommerlund, Mette Ramsing, Hans Gjørup, Anders A Rasmussen, Anni Aggerholm

Journal: Acta Derm. Venereol.. 2013 Nov;93(6):741-2.

 

Last Updated: 23 Oct 2013

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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:

Incontinentia pigmenti.
 

Author(s): Cláudia Schermann Poziomczyk, Júlia Kanaan Recuero, Luana Bringhenti, Fernanda Diffini Santa Maria, Carolina Wiltgen Campos, Giovanni Marcos Travi, André Moraes Freitas, Marcia Angelica Peter Maahs, Paulo Ricardo Gazzola Zen, Marilu Fiegenbaum, Sheila Tamanini de Almeida, Renan Rangel Bonamigo, Ana Elisa Kiszewski Bau

Journal: An Bras Dermatol. ;89(1):26-36.

 

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and ...

Last Updated: 14 Mar 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.