Author Interviews, Dermatology, Genetic Research / 20.11.2020

MedicalResearch.com Interview with: Jillian F. Rork, MD Assistant Professor of Dermatology Dartmouth-Hitchcock Medical Center at Manchester and The Geisel School of Medicine Society for Pediatric Dermatology Member MedicalResearch.com: What is the background for this study? Would you briefly explain the genetic condition of Down syndrome? Response: Down syndrome is the most common chromosomal abnormality, occurring in approximately 1 in 700 newborns in the United States. Trisomy of chromosome 21 can result in multisystem involvement such as hearing loss, heart defects, autoimmune conditions and dementia. This study focuses on how trisomy 21 affects one of the body’s largest organs, the skin. Current literature addressing dermatologic conditions associated with Down syndrome is limited. There is often emphasis on rare skin conditions such as elastosis perforans serpiginosa, milia-like idiopathic calcinosis cutis, and eruptive syringomas. There is lack of consensus on incidence of more common disorders. We performed a retrospective chart review of 101 patients with Down syndrome in our dermatology practice at the University of Massachusetts to better describe associated skin conditions. (more…)