Darier's follicular dyskeratosis

Abstract

Darier's follicular dyskeratosis (synonym: Dariers disease, DarierWhites disease) is a rare genetic disease with an autosomal dominant type of inheritance, which belongs to the group of acantholytic dermatoses and is characterized by a violation of keratinization processes with lesions of the skin, nails, mucous membranes of the oral cavity and genitals. Dariers disease is caused by a mutation in the ATP2A2 gene. This disrupts the operation of the SERCA2 pump and leads to a violation of calcium homeostasis in keratinocytes and a decrease in intercellular adhesion. Dariers disease is manifested by brownish papules in seborrheic and intertriginal areas with a keratotic surface, which can merge into macerated plaques. Typical nail changes in Dariers disease include red and white longitudinal stripes ending in V-shaped notches on the free edge of the nail plates. Warty acrokeratosis, as well as bullous, hemorrhagic, comedonic and linear-segmental types are clinical variants of Dariers disease. Dariers disease is often associated with neuropsychiatric disorders. Exacerbation may be caused by superinfection with Staphylococcus aureus or by herpes simplex virus. Histology in Darieres disease is characterized by pronounced dyskeratosis. For local therapy, keratolytic agents are important, as well as antiseptic treatment to avoid superinfection. In addition, local corticosteroids are used. Among the systemic methods of treatment, the systemic retinoids are the most effective. Ablative methods of treatment (dermabrasion, CO2 laser, Er:YAG laser) are effective in limited areas.

Keywords

• follicular dyskeratosis
• darier’s disease
• pathogenesis
• clinic
• diagnosis
• therapy