Darier Disease (also known as Darier-White disease) is a rare genetic skin disorder that causes wart-like bumps and a greasy rash to form on the skin. The spelling of the word "Darier" is pronounced /dæriˈeɪ/ in IPA phonetic transcription. It is named after French dermatologist Ferdinand-Jean Darier, who first described the condition in 1889. The spelling may be confusing as it does not follow typical English pronunciation rules; however, learning and correctly spelling medical terms is essential for effective communication in the healthcare industry.
Darier Disease, also known as Darier-White disease or keratosis follicularis, is a rare inherited skin disorder characterized by abnormal growth and differentiation of cells in the skin and mucous membranes. It is named after the French dermatologist Ferdinand-Jean Darier, who first described the condition in 1889.
The disease is caused by a mutation in the ATP2A2 gene, which leads to a malfunction in the calcium pump of cells in the skin and other organs. This results in the accumulation of calcium within the cells, leading to various skin abnormalities. The condition is autosomal dominant, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent.
Clinically, Darier Disease appears as warty, greasy, red or brownish-yellow papules that primarily affect seborrheic areas such as the chest, back, scalp, forehead, and nails. The lesions may be associated with a foul odor and can become inflamed or infected easily. Other common features include nail abnormalities, such as longitudinal ridges and V-shaped notches, as well as oral lesions. Moreover, individuals with Darier Disease may experience a sensitivity to sunlight, leading to worsening of their skin symptoms.
Despite its chronic nature, Darier Disease is generally not life-threatening, but it can significantly impact an individual's quality of life due to its unsightly appearance and pruritic nature. Treatment options for Darier Disease aim to alleviate symptoms and improve the appearance of the skin, such as topical medications, oral retinoids, and photodynamic therapy. Dermatological follow-up is essential to assess and manage this condition effectively.
The term "Darier Disease" is derived from the name of the French dermatologist Ferdinand-Jean Darier, who first described the condition in 1889. It is characterized by a hereditary disorder affecting the skin, nails, and mucous membranes.