PeDRA

Pediatric Dermatology Research Alliance

Active Studies

Investigation of Somatic Mosaicism in Cutaneous Vascular Anomalies and Related Syndromes

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Principal Investigator: Beth Drolet, MD University of Wisconsin, Madison Overview: Vascular anomalies are a group of rare, developmental disorders of blood vessels. These diseases can vary in severity, ranging from vascular birthmarks with mild tissue overgrowth to debilitating venous and … [Read more...] about Investigation of Somatic Mosaicism in Cutaneous Vascular Anomalies and Related Syndromes

Characterization of Wound Microbes in Epidermolysis Bullosa

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Principal Investigator: Kimberly Morel, MD Columbia University Overview: Patients with epidermolysis bullosa (EB) require daily care of chronic wounds that are at risk for colonization by various bacterial organisms. A subset of patients is at risk for squamous cell carcinoma (SCC) and … [Read more...] about Characterization of Wound Microbes in Epidermolysis Bullosa

Primary disorders of keratinization (DOK): Mutations and novel gene discovery

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Principal Investigator: Keith Choate, MD, PhD Yale University Overview: This study is using novel techniques to examine genetic mutations related to rare disorders of keratinization. Discoveries made are likely to impact the development of targeted therapies in future. This study is … [Read more...] about Primary disorders of keratinization (DOK): Mutations and novel gene discovery

Patient-reported medical needs of adults with EB – Survey Study

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Principal Investigator: Christina Boull, MD University of Minnesota Overview: This survey seeks to better understand the needs of adults with epidermolysis bullosa (EB). It will be disseminated through a number of channels, including on-line via patient advocacy organization websites. … [Read more...] about Patient-reported medical needs of adults with EB – Survey Study

Guidelines for Retinoid Use in Ichthyosis and other Disorders of Cornification

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Principal Investigator: Andrea Zaenglein, MD Penn State Overview: This is a multidisciplinary consensus effort to establish guidelines for the use of both topical and systemic retinoids in the use of ichthyosis and other disorders of cornification. Partial funding for this effort has been … [Read more...] about Guidelines for Retinoid Use in Ichthyosis and other Disorders of Cornification

Gorlin Syndrome (Basal Cell Carcinoma Nevus Syndrome) Clinical Registry and Genotype-Phenotype Correlation Study

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Principal Investigator: Joyce Teng, MD, PhD Stanford University Overview: This study will allow us to search for trends and relationships between participants’ specific genetic abnormalities and the types and severity of their health problems related to Gorlin Syndrome. We hope our study … [Read more...] about Gorlin Syndrome (Basal Cell Carcinoma Nevus Syndrome) Clinical Registry and Genotype-Phenotype Correlation Study

Epidermolysis Bullosa Clinical Characterization and Outcomes Database (CCOD)

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Principal Investigator: Anna Bruckner, MD University of Colorado Overview: This is an ongoing registry study spanning 10 sites. Data is being collected from children with epidermolysis bullosa (EB) to better understand their demographics, clinical characteristics, diagnoses, clinical events, … [Read more...] about Epidermolysis Bullosa Clinical Characterization and Outcomes Database (CCOD)