Kindler syndrome

Common Name(s)

Kindler syndrome, Poikiloderma of Kindler

Kindler syndrome is a rare inherited disorder that affects the skin. This condition is characterized by skin blistering (eg, dystrophic epidermolysis bullosa), increased sensitivity to light (photosensitivity), patchy discoloration of the the skin and widespread skin breakdown (together known as poikiloderma, which is also found in individuals with Rothmund-Thompson syndrome).  Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner.  Treatment for this condition consists of avoiding injury to the skin, limiting sun exposure, and carefully tending to blisters (often with antibiotics).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kindler syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Kindler syndrome" returned 20 free, full-text research articles on human participants. First 3 results:

Sporadic Kindler syndrome with a novel mutation.
 

Author(s): Hiram Larangeira de Almeida, Gláucia Thomas Heckler, Kenneth Fong, Joey Lai-Cheong, John McGrath

Journal: An Bras Dermatol. ;88(6 Suppl 1):212-5.

 

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement ...

Last Updated: 18 Dec 2013

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Kindler syndrome: report of two cases.
 

Author(s): Luciana Mendes, Lisiane Nogueira, Virginia Vilasboas, Carolina Talhari, Sinésio Talhari, Mônica Santos

Journal: An Bras Dermatol. ;87(5):779-81.

 

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, ...

Last Updated: 9 Oct 2012

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Revertant mosaicism in Kindler syndrome.
 

Author(s): Joey E Lai-Cheong, Celia Moss, Maddy Parsons, Noor Almaani, John A McGrath

Journal: J. Invest. Dermatol.. 2012 Mar;132(3 Pt 1):730-2.

 

Last Updated: 13 Feb 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 "Kindler syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case.
 

Author(s): Colin B Wiebe, Giorgio Petricca, Lari Häkkinen, Guoqiao Jiang, Chuanyue Wu, Hannu S Larjava

Journal: J. Periodontol.. 2008 May;79(5):961-6.

 

The association of aggressive periodontitis with Kindler syndrome was based on a single case in 1996 and later confirmed with a larger population. Since then, significant research has greatly increased our understanding of the molecular pathology of this disorder. We review recent ...

Last Updated: 5 May 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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