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Session Information

SYM S054 - Genetic Disorders: Presentations from Infancy to Adulthood

Open admission to eligible categories, no tuition or ticket


Date: Tuesday, March 05

CME Credits: 3.00

Location: Room D237/238/239

Time: 9:00 AM - 12:00 PM

Director: Julie V. Schaffer, MD, FAAD


  • Christine Ko, MD, FAAD - Handout
  • Dedee F. Murrell, MD, FAAD - Handout
  • Gabriele Richard, MD - Handout
  • Dawn H. Siegel, MD, FAAD
  • Antonio Torrelo, MD

Learning Objectives:
Following this course, the attendee should be able to:

  • Recognize the clinical spectrum of genetic skin disorders in pediatric and adult patients.
  • Identify systemic features and risks of morbidity due to cutaneous or extracutaneous manifestations associated with genodermatoses.
  • Utilize laboratory investigations and molecular technology to diagnose and manage patients with inherited skin disorders.

Elucidation of the genetic bases of inherited skin conditions has revised definitions, explained relationships among disorders, and expanded the limits of genodermatoses to include entities previously considered to be acquired. The interface between genetics and dermatology has broadened further with the identification of ‘new’ heritable diseases and recognition of full phenotypic spectrums, including atypical, late-onset, and mosaic manifestations. This session provides an update on cutaneous presentations and pathogenesis of genetic conditions featuring skin fragility, vascular anomalies, disordered cornification, immune dysregulation, and tumor predisposition. Recent advances in molecular diagnostics for genodermatoses and therapeutic applications of genetic discoveries will be highlighted.


Tuesday, March 05
9:00 AMNew findings and lessons learned in epidermolysis bullosa / Dr. Murrell
9:25 AMQuestions and Answers / Dr. Murrell
9:30 AMVascular anomalies: genetic insights and clinical pearls / Dr. Siegel
9:55 AMQuestions and Answers / Dr. Siegel
10:00 AMUpdate on cutaneous manifestations of autoinflammatory syndromes / Dr. Torrelo
10:25 AMQuestions and Answers / Dr. Torrelo
10:30 AMMultiple facial papules – when is it a genetic syndrome? / Dr. Ko
10:55 AMQuestions and Answers / Dr. Ko
11:00 AMRecent advances in molecular diagnostics for genodermatoses / Dr. Richard
11:25 AMQuestions and Answers / Dr. Richard
11:30 AMPiecing things together with molecular pathways: mosaic skin conditions and beyond / Dr. Schaffer
11:55 AMQuestions and Answers / Dr. Schaffer