Principal Investigator:
Marcia Hogeling, MD
University of California, Los Angeles
Overview:
Segmental Pigmentation Disorder (SegPD) is an uncommon skin condition affecting young children. Segmental Pigmentation Disorder consists of white and brown pigmented birthmarks that appear as large patches on the body. The underlying cause of Segmental Pigmentation Disorder is not known, but it suspected to be due to genetic changes in these different areas of skin color, in the way that the skin cells produce pigment. The purpose of this study is to search for the cause of SegPD, by performing genetic testing of skin samples. Knowing the underlying cause of SegPD will allow us to better explain this skin problem to parents, and make informed recommendations on screening, monitoring and possibly treatments. Many birthmarks in children have the same mutations seen in cancer, and we think our study also might contribute to cancer research if SegPD has these mutations.
Status:
This study was funded as a 2018 PeDRA Pilot Grant and is currently underway.