Darier-White disease, known clinically as keratosis follicularis, was first identified in the late 19th century by dermatologists Ferdinand-Jean Darier and James Clarke White. White identified the disorder as an inherited skin condition when a mother and daughter came to him for treatment.
Darier-White disease is characterized by abnormal hardening of skin cells on the outer layer of the skin, a process called keratinization. This is the same process that converts healthy skin cells into fingernails, but Darier-White disease sufferers have this occur elsewhere on the skin. Researchers have found that the skin cells of sufferers lack the junction that binds cells together (called desmosomes) which may allow keratinization to take place more frequently [source: Kwok]. The most visible symptom is small, greasy, yellow-brown, pimplelike papules that form en masse in areas around sebaceous glands [source: Spitz].
Researchers have found links between ATP2A2 gene mutations and the Darier-White disease, but have also found no common mutation pattern that defines the condition. Even people with the same ATP2A2 mutations can present different symptoms.