Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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]
Last updated: 9/23/2013

References

  1. Freiman A. Kindler syndrome. eMedicine Journal. June 18, 2010; http://emedicine.medscape.com/article/1118967-overview. Accessed 11/11/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Kindler syndrome have been answered. See questions and answers. You can also submit a new question.
On this page

In Depth 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.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.