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Kindler syndrome
Other Names for this Disease
- Bullous acrokeratotic poikiloderma of kindler and weary
- Congenital bullous poikiloderma
- Poikiloderma of Kindler
- Poikiloderma, congenital, with bullae, weary type
- Poikiloderma, hereditary acrokeratotic
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Overview
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).[1]
References
- Freiman A. Kindler syndrome. eMedicine Journal. http://emedicine.medscape.com/article/1118967-overview. Accessed November 11, 2011.
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General Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kindler syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Kindler syndrome. Click on the link to go to OMIM and review these resources.