Pediatric Dermatology Research Alliance

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Research
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- - - 2022 marks PeDRA’s 10th year of pursuing the vision of changing lives and healing children with skin disease through collaboration and discovery. Visit our 10th Anniversary Memories page to see what our community finds most memorable about the past ten years and to leave your own memory!
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Genetic Skin Disorders

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.

The Down Syndrome Subgroup at work, November 2021.

Chairs & Subgroups

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.

Links

Studies

Studies Seeking Collaborators

Coming soon.

Publications

Phillips, Gregory, et al. “A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa” Journal of the American Academy of Dermatology (2022).

Sun, Qisi, et al. “Development and Initial Validation of a Novel System to Assess Ichthyosis Severity” Journal of the American Academy of Dermatology (2022).

Betancourt, Nicolas, et al. “Gorlin Syndrome: Assessing Genotype-Phenotype Correlations and Analysis of Early Clinical Characteristics as Risk Factors for Disease Severity” Journal of Clinical Oncology (2022).

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).

Resources

Coming soon.

Active Member Locations

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Send us an email to get connected to the Genetics group or to learn more.