Darier-White disease: A review of the clinical features in 163 patients

Up-Regulation of Transient Receptor Potential Canonical 1 (TRPC1) following Sarco(endo)plasmic Reticulum Ca2+ATPase 2 Gene Silencing Promotes Cell Survival: A Potential Role for TRPC1 in Darier's Disease

“…Darier's disease (DD) is an autosomal dominant inherited skin disease, which is characterized by the loss of adhesion between epidermal cells and abnormal keratinization (Burge and Wilkinson 1992). Typical histological findings include focal areas of separation between suprabasal epidermal cells, unusual dyskeratosis with round dyskeratotic keratinocytes (Munro, 1992).…”

“…The mutated SERCA2 fails to sequester cytosolic Ca 2ϩ into the endoplasmic reticulum (ER) lumen, thereby disturbing the otherwise normal Ca 2ϩ homeostasis circuitry within the cells (Zhao et al, 2001;Ahn et al, 2003). Although oral retinoids, such as isotretinoin, have been shown to reduce hyperkeratosis (Burge and Wilkinson, 1992), the mechanism behind dysfunction of SERCA2 resulting in keratosis remains elusive.…”

“…The mutated SERCA2 fails to sequester cytosolic Ca 2ϩ into the endoplasmic reticulum (ER) lumen, thereby disturbing the otherwise normal Ca 2ϩ homeostasis circuitry within the cells (Zhao et al, 2001;Ahn et al, 2003). Although oral retinoids, such as isotretinoin, have been shown to reduce hyperkeratosis (Burge and Wilkinson, 1992), the mechanism behind dysfunction of SERCA2 resulting in keratosis remains elusive.Ca 2ϩ is an integral signaling element that regulates numerous cellular processes (Clapham, 1995;Berridge et al, 2000). In skin cells, Ca 2ϩ is potentially a vital component for differentiation, proliferation, and the formation of epithelial cell junctions (Tavadia et al, 2001).…”

Sarcoendoplasmic reticulum Ca2+ ATPase type 2 downregulated in human oral squamous cell carcinoma

“…[12][13][14] Interestingly, some patients with Darier's disease (30 -50%) have OPLs (hyperkeratosis). 29,30 However, in vitro studies showed that the calcium content of the ER lumen is a key determinant in the control of apoptosis induced by physiologic stimuli. 31 Regulation of SERCA expression and function by the antiapoptotic oncogene Bcl-2 has been reported to be involved in the regulation of the apoptotic potential of HeLa cells.…”

Darier's disease: Clinical and demographic features of nine cases

“…Darier's disease is an autosomal dominant inherited genodermatosis characterized by abnormal keratinization of the skin, genodermatosis and involvement of the nails and mucous membrane, however, it is not always familial 1 . It mostly develops in the first two decades of life, but the onset can also be at a later age 2,3 .…”