Home > E. Pathology by systems > Skin > Hailey-Hailey disease
Hailey-Hailey disease
Monday 1 November 2004
Definition: Recurrent eruption of vesicles and bullae involving predominantly the neck, groin, and axillary regions is characteristic of this disorder. Hailey-Hailey disease is caused by mutation in the ATP2C1 gene (MIM.604384).
Recurrent eruption of vesicles and bullae involving predominantly the neck, groin, and axillary regions is characteristic of this disorder. Histologic examination shows numerous acantholytic cells and the suprabasal type of blister formation strikingly resembling that in pemphigus vulgaris malignus.
This disorder, which appears to represent a defect in keratinocyte cohesion.
Microscopical synopsis
numerous acantholytic cells
suprabasal type of blister formation strikingly resembling that in pemphigus vulgaris malignus.
Etiology
germline mutations in the ATP2C1 gene (MIM.604384) causing a defect in keratinocyte cohesion
References
Foggia L, Hovnanian A. Calcium pump disorders of the skin. Am J Med Genet. 2004 Nov 15;131C(1):20-31. PMID: 15468148
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM. Calcium pumps and keratinocytes: lessons from Darier’s disease and Hailey-Hailey disease. Br J Dermatol. 2004 May;150(5):821-8. PMID: 15149492
