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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial pemphigus vulgaris


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Overview

Familial pemphigus vulgaris refers to a cluster of pemphigus vulgaris within a family. Pemphigus vulgaris is a rare autoimmune condition that is characterized by blisters and sores on the skin and mucus membranes. Although the exact cause of familial pemphigus vulgaris is unknown, autoimmune conditions generally occur when the body's immune system mistakenly attacks healthy tissue (in this case, the skin and mucus membranes).[1][2] Most cases of pemphigus vulgaris occur sporadically in people with no family history of the condition; however, rare reports exist of "familial" cases which affect more than one member of a single family. In these cases, the underlying genetic cause is unknown, although an association between pemphigus vulgaris and certain HLA antigens has been identified.[3] Treatment generally includes medications and other strategies to decrease blister formation, prevent infections and promote healing.[1][2]
Last updated: 12/17/2015

References

  1. Bassam Zeina, MD, PhD. Pemphigus Vulgaris. Medscape Reference. October 2015; http://emedicine.medscape.com/article/1064187-overview.
  2. Pemphigus vulgaris. DermNet NZ. April 2015; http://www.dermnetnz.org/immune/pemphigus-vulgaris.html.
  3. PEMPHIGUS VULGARIS, FAMILIAL. OMIM. August 2012; http://www.omim.org/entry/169610.
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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.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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 Familial pemphigus vulgaris. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.