Skip to main content

Hailey-Hailey Disease (Familial Benign Pemphigus)

  • Chapter

Abstract

Hailey-Hailey disease is a rare autosomal dominant genetic disease due to mutations in the ATP2C1 gene. The defective gene induces the production of altered desmosomal components in the Golgi apparatus. The clinical diagnosis of Hailey-Hailey disease is based on the recurrent erythematous plaques with vesicles and fissures that occurred symmetrically in flexural areas. The lesions can become hypertrophic and malodorous. The histopathological elements are characteristic: acantholytic vesicles and a “dilapidated brick wall” structure of the epidermis. Hailey-Hailey disease has no specific treatment, and the patients have a poor quality of life. Local and systemic treatment includes antibiotics, antifungals and corticosteroids. Other treatments include: botulinum toxin injections, retinoids and laser CO2 ablation.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   219.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD   279.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Further Reading

  • Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol. 1992;126(3):275–82.

    Article  CAS  Google Scholar 

  • Heinze R. Chronic benign familial pemphigus (Gougerot-Hailey-Hailey) with mucosal involvement in a diabetic. Dermatol Monatsschr. 1979;165(12):862–7 [German].

    CAS  PubMed  Google Scholar 

  • Hovnanian A. Chapter 49. Acantholytic disorders of the skin: Darier-White disease, acrokeratosis verruciformis, grover disease, and Hailey-Hailey disease. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick’s dermatology in general medicine. 7th ed. New York: McGraw Hill Medical; 2008. p. 438–42.

    Google Scholar 

  • Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein Jr EH. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000;24(1):61–5.

    Article  CAS  Google Scholar 

  • Hwang LY, Lee JB, Richard G, Uitto JJ, Hsu S. Type 1 segmental manifestation of Hailey-Hailey disease. J Am Acad Dermatol. 2003;49(4):712–4.

    Article  Google Scholar 

  • Johnson Jr BL, Yan AC. Chapter 6. Congenital diseases (Genodermatoses). In Elder DE, Elenitsas R, et al., editors. Lever’s histopathology of the skin. 10th ed. Philadelphia: Lippincott Williams & Wilkins, a Wolters Kluwer Business; 2009. p. 148–9.

    Google Scholar 

  • Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, Callewaert G, De Smedt H, Segaert S, Wuytack F. SPCA1 pumps and Hailey-Hailey disease. Biochem Biophys Res Commun. 2004;322(4):1204–13.

    Article  CAS  Google Scholar 

  • Pîrvu A, Ruşinoiu A, Panduru M, Constantin MM, Sălăvăstru C, Ţiplica GS, Costache M. Boala Hailey-Hailey. Dermatovenerologia. 2007;52(s1):23. nr. 2, [Romanian].

    Google Scholar 

  • Poblete-Gutiérrez P, Wiederholt T, König A, Jugert FK, Marquardt Y, Rübben A, Merk HF, Happle R, Frank J. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest. 2004;114(10):1467–74.

    Article  Google Scholar 

  • Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet. 2000;9(7):1131–40.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to George-Sorin Tiplica .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Salavastru, C.M., Tiplica, GS. (2015). Hailey-Hailey Disease (Familial Benign Pemphigus). In: Katsambas, A.D., Lotti, T.M., Dessinioti, C., D’Erme, A.M. (eds) European Handbook of Dermatological Treatments. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45139-7_35

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-45139-7_35

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-45138-0

  • Online ISBN: 978-3-662-45139-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics