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

A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage.
 

Author(s): Sung-Ying Huang, Lee-Jen Chen, Sheng-Chun Chiu

Journal: Indian J Ophthalmol. 2017 Jun;65(6):533-535.

 

Incontinentia pigmenti (IP) is a rare disease with multisystemic anomalies, which commonly presents just after birth. Here, we report a rare case of IP patient with vitreous hemorrhage in school-age children. Therefore, physicians have to be alert and evaluate IP patients at all ages. ...

Last Updated: 23 Jun 2017

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Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti.
 

Author(s): Aneta Soltirovska Salamon, Klaske Lichtenbelt, Frances M Cowan, Alexandra Casaer, Jeroen Dudink, Anneleen Dereymaeker, Darja Paro-Panjan, Floris Groenendaal, Linda S de Vries

Journal: Dev Med Child Neurol. 2016 Oct;58(10):1076-84.

 

To report on the neurological presentation and neuroimaging findings in newborn infants with incontinentia pigmenti.

Last Updated: 3 Sep 2016

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Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti.
 

Author(s): Sarah B Mulkey, Raghu H Ramakrishnaiah, Tonya M Balmakund

Journal: Pediatr. Neurol.. 2016 Jan;54():76-81.

 

Incontinentia pigmenti is a rare X-linked neurocutaneous disorder that can present in the neonatal period with seizures and encephalopathy. Brain magnetic resonance imaging and magnetic resonance angiography may reveal cerebral infarction and arteriopathy.

Last Updated: 26 Dec 2015

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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 8 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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Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis.
 

Author(s): Snezana Minić, Miljana Obradović, Igor Kovacević, Dusan Trpinac

Journal: Srp Arh Celok Lek. ;138(7-8):408-13.

 

Incontinentia pigmenti (IP) is an X-linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies.

Last Updated: 16 Sep 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.