Genetic skin disorders include an array of conditions where small changes in a child’s genetic code affect the structure and function of the skin. These diseases can affect families with no known history of disease, are difficult to screen for, and often result in devastating pain and reduced life expectancy. Contact us if you’re interested in getting involved!
PeDRA’s Genetic Skin Disorders Focused Study Group is divided into three overlapping subgroups of dedicated investigators:
Chaired by Keith Choate, MD of Yale University, the Disorders of Cornification Subgroup is engaged in the study of genetics, pathophysiology, and potential therapeutics for diseases such as ichthyosis and pachyonychia congenita.
Chaired by Anna Bruckner, MD of the University of Colorado, the Epidermolysis Bullosa (EB) Subgroup (also known as the EB Clinical Research Consortium) is focused on understanding the clinical characteristics and complications of EB and to establish a forum for the development of evidence based clinical care and coordinated clinical research.
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.
Studies
Publications
Levin, Laura, et al. “Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database” Pediatric Dermatology (2020).
Zaenglein, Andrea, et al. “Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents” Pediatric Dermatology (2020).
Shayegan, Leila, et al. “Skin cleansing and topical product use in patients with epidermolysis bullosa: Results from a multicenter database.” Pediatric Dermatology (2020).
Feinstein, James A., et al. “Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America.” JAMA Dermatology (2018).