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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pretibial epidermolysis bullosa


Other Names for this Disease
  • DEB-Pt
  • Pretibial DEB
  • Pretibial dystrophic epidermolysis bullosa
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

Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the "pretibial region"). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring.[1][2] Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner.[3][1] Treatment is based on the signs and symptoms present in each person.[2]
Last updated: 3/30/2016

References

  1. Pretibial dystrophic epidermolysis bullosa. Orphanet. March 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410.
  2. Ellen G Pfendner, PhD and Anne W Lucky, MD. Dystrophic Epidermolysis Bullosa. GeneReviews. February 2015; http://www.ncbi.nlm.nih.gov/books/NBK1304/.
  3. EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL. OMIM. May 2008; http://www.omim.org/entry/131850.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Pretibial epidermolysis bullosa. This website is maintained by the National Library of Medicine.
  • Mayo Clinic has an information page on Pretibial epidermolysis bullosa.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Pretibial epidermolysis bullosa. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DEB-Pt
  • Pretibial DEB
  • Pretibial dystrophic epidermolysis bullosa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.