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

Is adermatoglyphia an additional feature of Kindler Syndrome?
 

Author(s): Hiram Larangeira de Almeida, Fernanda Mendes Goetze, Kenneth Fong, Joey Lai-Cheong, John McGrath

Journal: An Bras Dermatol. ;90(4):592-3.

 

A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics ...

Last Updated: 17 Sep 2015

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The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
 

Author(s): Leila Youssefian, Hassan Vahidnezhad, Mohammadreza Barzegar, Qiaoli Li, Soheila Sotoudeh, Ameneh Yazdanfar, Amir Hooshang Ehsani, Abdol-Mohammad Kajbafzadeh, Nikoo Mozafari, Nasser Ebrahimi Daryani, Farzaneh Agha-Hosseini, Sirous Zeinali, Jouni Uitto

Journal: J. Invest. Dermatol.. 2015 May;135(5):1447-50.

 

Last Updated: 17 Apr 2015

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Oxidative stress and mitochondrial dysfunction in Kindler syndrome.
 

Author(s): Elisabeth Zapatero-Solana, Jose Luis García-Giménez, Sara Guerrero-Aspizua, Marta García, Agustí Toll, Eulalia Baselga, Maria Durán-Moreno, Jelena Markovic, Jose Manuel García-Verdugo, Claudio J Conti, Cristina Has, Fernando Larcher, Federico V Pallardó, Marcela Del Rio

Journal:

 

Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and ...

Last Updated: 28 Apr 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 "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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