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Concept information

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Vesiculobullous > Pemphigus, Benign Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Pemphigus, Benign Familial
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Pemphigus, Benign Familial

Terme préférentiel

Pemphigus, Benign Familial  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • Benign Chronic Pemphigus
  • Chronic Benign Familial Pemphigus
  • Familial Benign Chronic Pemphigus
  • Hailey-Hailey Disease

Qualificatif(s) autorisé(s)

Traductions

  • Pemphigus chronique bénin familial

    français

  • Dermatose acantholytique familiale
  • Maladie de Hailey et Hailey
  • Maladie de Hailey-Hailey
  • Maladie de Hugh-Hailey
  • Pemphigus bénin chronique familial

URI

http://data.loterre.fr/ark:/67375/JVR-NN8JG2KG-C

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RDF/XML TURTLE JSON-LD Date de création 03/01/1991, dernière modification le 22/02/2019