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Session Information

SYM S002 - Genetic Disorders: Presentations from Infancy to Adulthood

Open admission to eligible categories, no tuition or ticket


Date: Friday, March 21

CME Credits: 3.00

Location: Room 108/110/112

Time: 9:00 AM - 12:00 PM

Director: Julie V. Schaffer, MD, FAAD - Handout

  • Anna Lee Bruckner, MD, FAAD - Handout
  • Beth Ann Drolet, MD, FAAD
  • Sancy A. Leachman, MD, PhD, FAAD - Handout
  • Kathryn Schwarzenberger, MD, FAAD
  • Amy J. Theos, MD, FAAD - Handout

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 as 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 vascular and hematologic anomalies, pigmented lesions, immune dysregulation, and tumor predisposition. Recent advances in molecular diagnostics for genodermatoses and therapeutic applications of genetic discoveries will be highlighted.


Friday, March 21
9:00 AMUpdate on vascular malformations and overgrowth syndromes / Dr. Drolet
9:20 AMQuestions and Answers / Dr. Drolet
9:25 AMThe role of genetic testing in melanoma patients / Dr. Leachman
9:50 AMQuestions and Answers / Dr. Leachman
9:55 AMMultiple or large café-au-lait macules: when is it a genetic syndrome? / Dr. Theos
10:20 AMQuestions and Answers / Dr. Theos
10:25 AMDermatologic presentations of inherited hypercoagulable states / Dr. Schwarzenberger
10:50 AMQuestions and Answers / Dr. Schwarzenberger
10:55 AMPearls and pitfalls of molecular testing for genodermatoses / Dr. Bruckner
11:20 AMQuestions and Answers / Dr. Bruckner
11:25 AMClinical insights from genodermatoses: from inflammation to tumorigenesis / Dr. Schaffer
11:50 AMQuestions & Answers / All faculty