Adolescent Female with Brown Papules and Peculiar Nails

Abstract

Darier disease, also known as keratosis follicularis/dyskeratosis follicularis/Darier-White disease is an autosomal dominant genodermatosis, caused by mutations of ATP2A2 gene. Clinically is characterized by pruritic hyperkeratotic red—brown papules mainly distributed on seborrheic areas, nail abnormalities and, less often, mucous membranes involvement. The peak onset age is during puberty, with an equal gender distribution. Histopathologic examination plays a key role in establishing the diagnosis, with suprabasal acantholysis and dyskeratosis being the hallmark pathological features in this dermatological condition. The treatment approach is symptomatic, with various topical and systemic agents and various procedures listed among therapeutic options. There are several diseases with similar features both clinical and histopathologic. Herein, the authors present a case of a 15-year-old female patient with typical clinical and histological features of Darier disease, that led to the diagnosis for members of several generations in her family.