Mentee Morgan DykmanUniversity of Minnesota Mentor Jillian Rork, MDDartmouth-Hitchcock Clinic Overview Patients with Down syndrome (DS) experience skin conditions more frequently and earlier in life than the average person. By young adulthood, 56% of patients with DS have been diagnosed … [Read more...] about Quality of Life Survey in Patients with Down Syndrome and Dermatologic Conditions
Genetic Skin Disorders
A Randomized Phase 2 Clinical Trial to Evaluate a Temporary Skin Substitute (Spincare™ Matrix) for Wound Healing in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Fellow Piru Pathmarajah, MDStanford School of Medicine Mentor Dawn Siegel, MDStanford University Overview Recessive dystrophic epidermolysis bullosa (RDEB) is a subtype of epidermolysis bullosa (EB), a rare, inherited skin disorder. Large, painful wounds are the hallmark of this condition, … [Read more...] about A Randomized Phase 2 Clinical Trial to Evaluate a Temporary Skin Substitute (Spincare™ Matrix) for Wound Healing in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Online, Home-Based Epidermolysis Bullosa Patient Registry
Fellow Jaron NazaroffUniversity of California, Irvine Mentor Jean Tang, MD, PhDStanford University Overview Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare skin disease caused by changes in patient’s DNA. These changes in DNA cause fragile skin that leads patients to develop … [Read more...] about Online, Home-Based Epidermolysis Bullosa Patient Registry
Epidermolysis Bullosa Simplex Disease Activity and Response Tool (EBSdart): Scoring Clinical Severity and Outcomes in Epidermolysis Bullosa Simplex
Fellow Austin JohnsonStanford Medical School Mentor Joyce Teng, MD, PhDStanford School of Medicine Overview Epidermolysis Bullosa (EB) is a devastating hereditary blistering disease divided into subtypes based on unique mutations and location of affected skin areas. While there have been … [Read more...] about Epidermolysis Bullosa Simplex Disease Activity and Response Tool (EBSdart): Scoring Clinical Severity and Outcomes in Epidermolysis Bullosa Simplex
Deciphering the “ugly duckling” – Natural history and molecular characterization of epidermolysis bullosa nevi
Principal Investigators: Amy Paller, MDNorthwestern UniversityFeinberg School of Medicine Antonia Reimer-Taschenbrecker, MDUniversity of Freiburg, GermanyNorthwestern UniversityFeinberg School of Medicine Overview: Epidermolysis bullosa (EB) is a rare genetic skin disease with fragile skin, … [Read more...] about Deciphering the “ugly duckling” – Natural history and molecular characterization of epidermolysis bullosa nevi
Characterization of Wound Microbes in Epidermolysis Bullosa
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
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
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
