James Clark White, a dermatologist at Harvard Medical School, independently characterized and published his observations on this dermatological disorder in the same year as Darier (1889), which is why Darier's disease is also referred to as Darier-White's disease.
Linear Darier's disease List of toradol conditions Darier's sign.
Darier's disease (DD) (OMIM #124200) is an autosomal dominant disease that affects both sexes and all ethnic groups. The disease was first independently described by Darier and White in 1889 (also known as Darier-White disease or follicular keratosis). The prevalence of BD is estimated from 1 case per 30,000 population (North-East England, Scotland, Slovenia) to 1 case per 100,000 population (Denmark). Penetrance is complete, but spontaneous mutations are common.
Etiology and pathogenesis of Darier's disease. The Darier disease (BD) gene was mapped by linkage analysis to a region of chromosome 12q23-24 in 1993, and ATP2A2 was identified as a defective gene in 1999. ATP2A2 encodes the 2 Ca 2+ isoform of adenosine triphosphatase (ATPase) of the sarcoendoplasmic reticulum (SERCA2), which is a calcium pump that transports Ca 2+ from the cytosol to the lumen of the endoplasmic reticulum (ER). Darier disease (DD) is caused by mutations that inactivate one ATP2A2 allele.