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Genetic Disorders: Presentations from Infancy to Adulthood
Tuesday, March 05
9:00 AM - 12:00 PM
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
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 AM||New findings and lessons learned in epidermolysis bullosa / Dr. Murrell|
|9:25 AM||Questions and Answers / Dr. Murrell|
|9:30 AM||Vascular anomalies: genetic insights and clinical pearls / Dr. Siegel|
|9:55 AM||Questions and Answers / Dr. Siegel|
|10:00 AM||Update on cutaneous manifestations of autoinflammatory syndromes / Dr. Torrelo|
|10:25 AM||Questions and Answers / Dr. Torrelo|
|10:30 AM||Multiple facial papules – when is it a genetic syndrome? / Dr. Ko|
|10:55 AM||Questions and Answers / Dr. Ko|
|11:00 AM||Recent advances in molecular diagnostics for genodermatoses / Dr. Richard|
|11:25 AM||Questions and Answers / Dr. Richard|
|11:30 AM||Piecing things together with molecular pathways: mosaic skin conditions and beyond / Dr. Schaffer|
|11:55 AM||Questions and Answers / Dr. Schaffer|