Progeroid dermatological manifestations in myotonic dystrophy type 1. Case report

Abstract

Introduction: myotonic dystrophy type 1 is an autosomal dominant genetic disease with highly variable expressivity. Among the systemic alterations that are part of the clinical manifestations are neurodegeneration and premature aging, which is why it is part of progeroid syndromes. Objective: to describe progeroid dermatological manifestations in type 1 myotonic dystrophy. Case report: 44-year-old patient who, at the age of 9, confirmed a clinical diagnosis of myotonic dystrophy type 1. A family history with the same genetic disorder was collected. It presents dysmorphic signs in the skull, face, extremities and in different organs, among which are bilateral sensorineural deafness, early-onset cataracts, as well as dermatological manifestations such as seborrheic dermatitis and other lesions reminiscent of ichthyosis. Conclusions: DM1 is often referred to as a progeroid syndrome, which implies assuming that it exposes the usual underlying mechanisms of aging that are also those that participate in the pathogenesis of DM1 and in turn justify the dermatological manifestations observed