Hailey-Hailey Disease

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Xu, C. Hailey-Hailey Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4069 (accessed on 28 September 2026).

Xu C. Hailey-Hailey Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4069. Accessed September 28, 2026.

Xu, Camila. "Hailey-Hailey Disease" Encyclopedia, https://encyclopedia.pub/entry/4069 (accessed September 28, 2026).

Xu, C. (2020, December 23). Hailey-Hailey Disease. In Encyclopedia. https://encyclopedia.pub/entry/4069

Xu, Camila. "Hailey-Hailey Disease." Encyclopedia. Web. 23 December, 2020.

Hailey-Hailey Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hailey-hailey-disease

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.

genetic conditions

References

Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM.Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J Invest Dermatol. 2003 Oct;121(4):688-94.
Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol. 1992 Mar;126(3):275-82.
Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS,Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A. Hailey-Hailey disease:molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol. 2002 Feb;118(2):338-43.
Foggia L, Aronchik I, Aberg K, Brown B, Hovnanian A, Mauro TM. Activity of thehSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cellviability in Darier disease. J Cell Sci. 2006 Feb 15;119(Pt 4):671-9.
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T,Epstein EH Jr. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000 Jan;24(1):61-5.
Lee SE, Lee SH. Skin Barrier and Calcium. Ann Dermatol. 2018Jun;30(3):265-275. doi: 10.5021/ad.2018.30.3.265.
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-Haileydisease. Biochem Biophys Res Commun. 2004 Oct 1;322(4):1204-13. Review.
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 ATP2C1encoding a novel Ca(2+) pump. Hum Mol Genet. 2000 Apr 12;9(7):1131-40.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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