Tracing the birth of birthmarks

Dr. Kinsler: “Understanding these mutations is the key to understanding why a birthmark has arisen.”

Thanks to doctors and researchers like Veronica Kinsler, MD, PhD, clinical phenotyping and genetic sequencing therapies have revolutionized the field of birthmarks. Friday, in her Plenary session presentation, “The Genetics of Birthmarks,” Dr. Kinsler analyzed how dermatologists can use this knowledge to shape clinical management and deliver first-rate care.

The vital factor in mastering this topic, she said, is to understand mosaicism. From a medical point of view, this term refers to the concurrence of mutated and non-mutated cells in a person. “Understanding these mutations is the key to understanding why a birthmark has arisen.”

Once we discover the genetic causes, we are able to reappraise our understanding of birthmarks to recognize and potentially recommend new treatments, Dr. Kinsler went on to say. This includes the potential of personalized treatment plans, which are in the development and trial phase.

“Theoretically, personalized medicine should improve care of patients with birthmarks by using medical therapies to target the root cause in any one individual,” she said.

Dr. Kinsler said she hopes her colleagues appreciate the impending radical shift of birthmark management, including the increasing importance of medical and even gene therapy.

Dr. Kinsler is the academic lead clinician in the pediatric dermatology department at Great Ormond Street Hospital for Children in London, and is principal investigator and Wellcome Trust Fellow in the genetics and genomic medicine unit at the University College London (UCL) Institute of Child Health.


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