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

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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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis.
 

Author(s): Gabriela Franco Marques, Claudio Sampieri Tonello, Juliana Martins Prazeres Sousa

Journal: An Bras Dermatol. ;89(3):486-9.

 

Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves ...

Last Updated: 18 Jun 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 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.