Dyskeratosis Congenita

Dyskeratosis Congenita

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.

  • Provider:StatPearls, LLC
  • Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/20794
  • Start Date: 2023-09-01 05:00:00
  • End Date: 2023-09-01 05:00:00
  • Credit Details: AMA PRA Category 1 Credit™️: 1.0 hours
    Nursing: 1.0 hours
    Pharmacy: 1.0 hours
  • MOC Credit Details: ABS - 1.0 Point; Credit Type(s): Accredited CME (ABS)
    ABPATH - 1.0 Point; Credit Type(s): Lifelong Learning (ABPATH)
    ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
    ABS - 1.0 Point; Credit Type(s): Self-Assessment (ABS)
    ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP)
  • Commercial Support: No
  • Activity Type: Enduring Material
  • CME Finder Type: Online Learning
  • Fee to Participate: Variable
  • Measured Outcome: Learner Knowledge, Learner/Team Competence
  • Provider Ship: Directly Provided
  • Registration: Open to all
  • Specialty: Dermatopathology, General Pediatrics, General Surgery, Internal Medicine, Molecular Genetic Pathology
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