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Pemphigus, Benign Familial
Definition: An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.

Synonym(s): Familial Benign Chronic Pemphigus / Hailey-Hailey Disease / Benign Familial Pemphigus / Familial Pemphigus, Benign / Hailey Hailey Disease
See also:
Pemphigus   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Pemphigus, Benign Familial"
             

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - Hailey-Hailey Disease Homewww.haileyhailey.com 4
view the HON description of the site HONcode - Orphanet: Familial benign chronic pemphiguswww.orpha.net  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Diseases - Therapeutics in Dermatologywww.therapeutique-dermatologique.org  
 
 

See also: - Pemphigus

Broader term(s): - Skin Diseases, Genetic - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Skin Diseases, Vesiculobullous - Skin Diseases - Skin and Connective Tissue Diseases
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Broader term(s): - Skin Diseases

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Skin and Connective Tissue Diseases
              Skin Diseases
                  Skin Diseases, Vesiculobullous 
                  Skin Diseases, Genetic 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Skin Diseases, Genetic 

MeSH 2010 © U.S. National Library of Medicine®.

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