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Progeroid dermatological manifestations in myotonic dystrophy type 1. Case report

By
Deysi Licourt Otero ,
Deysi Licourt Otero

Hospital Pediátrico Pepe Portilla. Departamento Provincial de Genética Médica, Pinar del Río, Cuba

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Melissa Toledo Licourt ,
Melissa Toledo Licourt

Universidad de Ciencias Médicas Pinar del Río, Cuba

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Belkys Candelaria Gómez ,
Belkys Candelaria Gómez

Hospital Pediátrico Pepe Portilla. Departamento Provincial de Genética Médica, Pinar del Río, Cuba

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Ilena Aurora Díaz Hernández ,
Ilena Aurora Díaz Hernández

Universidad de Ciencias Médicas de Pinar del Río. Policlínico Universitario 1ero de enero. Consolación del Sur. Pinar del Río, Cuba

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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. Clinical case: 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.

How to Cite

1.
Licourt Otero D, Toledo Licourt M, Gómez BC, Díaz Hernández IA. Progeroid dermatological manifestations in myotonic dystrophy type 1. Case report. Salud, Ciencia y Tecnología [Internet]. 2024 Apr. 15 [cited 2024 May 28];4:780. Available from: https://revista.saludcyt.ar/ojs/index.php/sct/article/view/780

The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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