Genetic Skin Disorders

Project Lead: Amy Paller, MDNorthwestern University Overview: Epidermolysis bullosa (EB) is a group of rare, inherited skin disorders that causes fragile, blistering skin when exposed to minimal trauma. Patients with EB often experience poor nutrition, chronic inflammation, abnormal … [Read more...] about Developing consensus guidelines on management of osteoporosis in epidermolysis bullosa: a delphi survey

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

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)

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

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

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