Calcium Pumps and Keratinocytes: Lessons From Darier's Disease and Hailey-Hailey Disease

J. Dhitavat; R.J. Fairclough; A. Hovnanian; S.M. Burge


The British Journal of Dermatology. 2004;150(5) 

In This Article

Mutations in ATP2A2 in Other Skin Diseases

ATP2A2 mutations have been identified in two conditions that share phenotypic features with Darier's disease. In linear acantholytic dyskeratotic epidermal naevi, we demonstrated ATP2A2 mutations in affected skin, but not in leucocytes or unaffected skin, showing that at least some of these unusual epidermal naevi are manifestations of segmental Darier's disease.[28] Our group has also shed light on the long-standing debate over the relationship between Darier's disease and another dominantly inherited condition, acrokeratosis verruciformis (Hopf's disease).[29,30] Individuals with Darier's disease have warty papules on the dorsa of hands and feet similar to those later described by Hopf in acrokeratosis verruciformis.[31] We found ATP2A2 mutations in a family with the phenotype of acrokeratosis verruciformis of Hopf,[32] suggesting that acrokeratosis verruciformis of Hopf is an acral variant of Darier's disease.