Genetic Skin Disorders

Genetic skin disorders encompass a wide range of conditions in which minor variations in a child’s genes can profoundly alter the structure and function of the skin. These conditions may occur without any family history, are often challenging to diagnose early, and can lead to significant morbidity, chronic pain, and a reduced life expectancy. Examples include epidermolysis bullosa, ichthyosis, and dermatologic conditions in Down Syndrome. Understanding these disorders is vital for early detection, effective care, and improved long-term outcomes.

The Genetic Skin Disorders Focused Study Group brings together pediatric dermatologists and researchers committed to advancing knowledge in this complex field. The group collaborates to identify research priorities, including mechanisms of disease, diagnostic strategies, and potential therapeutic approaches. Through mentoring, multi-institutional collaboration, and resource sharing, the group strives to improve the recognition, management, and quality of life for children and families affected by genetic skin conditions.

The Genetic Skin Breakout Session at PeDRA 2025.

Chairs

The Genetic Skin Disorders Focused Study Group is Chaired by Shireen Guide, MD of Stanford University, and Vice Chaired by Jillian Rork, MD of Dartmouth Hitchcock Medical Center.

Shireen Guide, MD

Chair

Stanford University

Jillian Rork, MD

Vice Chair

Dartmouth Hitchcock Medical Center

Links and Resources

View meeting minutes here.

PeDRA Publications Related to Genetic Skin Disorders View All PeDRA Publications

Resources for Researchers Virtual Education

PeDRA Grants and Fellowships Program

PeDRA Annual Conference View All Events

Subgroups

The Disorders of Cornification Subgroup is co-chaired by Keith Choate, MD of the Yale and Amy Paller, MD of Northwestern University.

Keith Choate, MD

Co-Chair

Yale

Amy Paller, MD

Co-Chair

Northwestern University

Co-chaired by Jillian Rork, MD of Dartmouth and Kristen Holland, MD of the Medical College of Wisconsin, the Down Syndrome Subgroup aims to better understand the pathophysiology of dermatologic conditions in Down Syndrome.

Jillian Rork, MD

Co-Chair

Dartmouth

Kristen Holland, MD

Co-Chair

Medical College of Wisconsin

The Epidermolysis Bullosa Subgroup is chaired by Anna Bruckner, MD of the University of Colorado.

Anna Bruckner, MD

Chair

University of Colorado

The NF1 Subgroup is co-chaired by Lisa Arkin, MD of the University of Wisconsin and Lilit Garibyan, MD, PhD of Massachusetts General Hospital.

Lisa Arkin, MD

Co-Chair

University of Wisconsin

Lilit Garibyan, MD, PhD

Co-Chair

Massachusetts General Hospital

Questions or looking to get involved?

Email us to get connected to the Genetic Skin Disorders group or to learn more.