Principal Investigators:
Amy Paller, MD
Northwestern University
Feinberg School of Medicine
Antonia Reimer-Taschenbrecker, MD
University of Freiburg, Germany
Northwestern University
Feinberg School of Medicine
Overview:
Epidermolysis bullosa (EB) is a rare genetic skin disease with fragile skin, leading to blisters and wounds after just already minor injury. EB nevi (EBN) are large pigmented spots occurring in up to 14% of EB patients. They grow rapidly and show certain characteristics of melanoma, the most dangerous skin cancer in humans, although they are thought to be benign. Why EBN develop is unclear. It is also unknown whether EBN are, in fact, true nevi and thus carry certain genetic changes in BRAF or NRAS genes with a risk of transformation into cancer. Our goal is to extend the understanding of the course and pathogenesis of EBN by joining patient cohorts of the PeDRA EBCRC group and international reference centers. By analyzing EBN photographs, clinical data, and tissue samples, we aim to better understand how and why EBN develop, as well as their characteristics, allowing more effective longitudinal evaluation.
Status:
This project was funded by a 2020 PeDRA Research Grant.
