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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kindler syndrome


Other Names for this Disease
  • Poikiloderma, hereditary acrokeratotic
  • Bullous acrokeratotic poikiloderma of kindler and weary
  • Poikiloderma, congenital, with bullae, weary type
  • Congenital bullous poikiloderma
  • Poikiloderma of Kindler
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Overview

Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of inherited conditions that cause the skin to be fragile and blister easily. This condition is characterized by skin blistering from early infancy. Other symptoms may include an increased sensitivity to light (photosensitivity), patchy discoloration of the the skin and widespread skin breakdown (poikiloderma), and thickening and hardening of the skin on the palms of the hands and soles of the feet (hyperkeratosis). 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][2]
Last updated: 7/6/2016

References

  1. Freiman A. Kindler syndrome. Medscape. August 17, 2015; http://emedicine.medscape.com/article/1118967-overview.
  2. Kindler syndrome. Genetics Home Reference. June 2016; https://ghr.nlm.nih.gov/condition/kindler-syndrome.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Poikiloderma, hereditary acrokeratotic
  • Bullous acrokeratotic poikiloderma of kindler and weary
  • Poikiloderma, congenital, with bullae, weary type
  • Congenital bullous poikiloderma
  • Poikiloderma of Kindler
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.