Endocrine Abstracts

Introduction: Darier disease, also known as dyskeratosis follicularis, is a rare autosomal dominant genodermatosis characterized by a persistent eruption of keratotic papules. It is caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca 2+ -ATPase isoform 2 in the endoplasmic reticulum. Since it is expressed in most tissues, other organs besides the skin may be involved in Darier disease. In this case, we report a patient treated for Darier disease who w...