KERATOSIS FOLLICULARIS

Course overview

DARIER DISEASE, ALSO KNOWN AS KERATOSIS FOLLICULARIS, IS A GENODERMATOSIS THAT IS INHERITED IN AN AUTOSOMAL DOMINANT FASHION. THE DISEASE CLASSICALLY FEATURES KERATOTIC PAPULES AND LONGITUDINAL EYRTHRONYCHIA. IT IS RARE AND DISTRIBUTED WORLDWIDE. MUTATIONS IN THE ATP2A2 GENE CAUSE DARIER DISEASE. THIS GENE ENCODES A CALCIUM PUMP IN THE ENDOPLASMIC RETICULUM. THE CONDITION HAS A HIGH PENETRANCE BUT HAS VARIABLE EXPRESSIVITY. THAT MEANS THAT EVERY PERSON THAT INHERITS THE GENOTYPE WILL HAVE SOME MANIFESTATION OF THE DISEASE, BUT ITS SEVERITY AND FEATURES WILL NOT BE THE SAME ACROSS ALL AFFECTED PERSONS. BECAUSE OF THIS, PATIENTS WITH THE DISEASE CANNOT ALWAYS RECALL A FAMILY HISTORY. THUS, IT IS IMPORTANT NOT TO EXCLUDE DARIER DISEASE BASED SOLELY ON A NEGATIVE FAMILY HISTORY OF THE DISEASE. SUNLIGHT, HEAT, INFECTIONS, AND FRICTION CAN EXACERBATE THE CONDITION. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF DARIER DISEASE AND THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING THIS RARE CONDITION.