Birthmarks
Birthmarks are common and can take a toll on a child’s self-esteem and family dynamics. Birthmarks often go beyond the skin to involve the vascular or nervous systems, may be linked to cancer, and may be just one part of a larger syndrome with whole-body health effects.
PeDRA’s Birthmarks Focused Study Group is made up of physicians and scientists committed to understanding the biology underlying birthmarks and revealing new treatments. Priorities include exploring the use of beta-blockers in high-risk patients, exploring the phenotype-genotype correlation of overgrowth syndromes, and the search for novel genes of medical significance in birthmarks.
Chairs
The Birthmarks Working Group is chaired by Joyce Teng, MD of Stanford University, and Jenna Streicher, MD of Indiana University.
Links
Studies
- Assessment of current practices in management of infantile hemangioma
- Capillary Malformation-Arteriovenous Malformation Syndrome Guidelines
- Examining How Virtual Reality Improves Children’s Coping During Dermatologic Procedures
- Genomic and Non genomic Causes of Segmental Pigmentation Disorder
- Investigation of Somatic Mosaicism in Cutaneous Vascular Anomalies and Related Syndromes
Studies Seeking Collaborators
Coming soon.
Publications
Partan, Elizabeth, et al. “Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling” medRxiv (2021).
Davies, Olivia, et al. “Cutaneous mosaic RASopathies associated with rhabdomyosarcoma” Pediatr Blood Cancer (2022).
Cotton, Colleen, et al. “Association of Demographic Factors and Infantile Hemangioma Characteristics With Risk of PHACE Syndrome” JAMA Dermatology (2021).
Fernández Faith, Esteban, et al. “Clinical Features, Prognostic Factors, and Treatment Interventions for Ulceration in Patients With Infantile Hemangioma” JAMA Dermatology (2021).
Klein, Alyssa, et al. “Anesthetic techniques used for pulsed dye laser (PDL) in the treatment of port-wine birthmarks: An exploratory assessment of current attitudes and practice patterns among pediatric dermatologists in the United States” Pediatric Dermatology (2021).
Dodds, Melissa, et al. “Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series.” Pediatric Dermatology (2020).
Stefanko, Nicole, et al. “Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes” Pediatric Dermatology (2020).
Stefanko, Nicole, et al. “Natural history of PHACE syndrome: A survey of adults with PHACE.” Pediatric Dermatology (2019).
Siegel, Dawn H., et al. “Analyzing the genetic spectrum of vascular anomalies with overgrowth via cancer genomics.” Journal of Investigative Dermatology (2018).
Resources
Coming soon.
Active Member Locations
Get involved!
Send us an email to get connected to the Birthmarks group or to learn more.