DYSKERATOSIS CONGENITA

Course overview

DYSKERATOSIS CONGENITA, ALSO KNOWN AS ZINSSER-ENGMAN-COLE SYNDROME, IS AN UNCOMMON GENODERMATOSIS CLASSICALLY ASSOCIATED WITH THE TRIAD OF ORAL LEUKOPLAKIA, NAIL DYSTROPHY, AND RETICULAR HYPERPIGMENTATION. MOST AFFECTED BY THE SYNDROME HAVE A DEFECT IN THE DYSKERATOSIS CONGENITA 1 (DKC1) GENE WHICH ENCODES THE DYSKERIN PROTEIN INVOLVED IN TELOMERE MAINTENANCE. INHERITANCE IS MOST COMMONLY X-LINKED RECESSIVE, AND SUBSEQUENTLY, MALES ARE AFFECTED THREE TIMES MORE FREQUENTLY THAN FEMALES. CLINICAL FINDINGS VARY WIDELY AND MAY INCLUDE ATROPHIC WRINKLED SKIN, EYE DISEASE, AND BONE MARROW FAILURE. TREATMENT IS DIFFICULT AND LARGELY DEPENDS ON AN INTERPROFESSIONAL APPROACH. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, EVALUATION, AND MANAGEMENT OF DYSKERATOSIS CONGENITA AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF AFFECTED PATIENTS.