Dawn Siegel, MD is a Professor in Dermatology at Stanford University. She is affiliated with Lucile Packard Children's Hospital (LPCH) at Stanford and Stanford Hospital and Clinics (SHC). She received her medical degree from University of Wisconsin -Madison and completed her dermatology residency and pediatric dermatology fellowship at University of California San Francisco. She has been in practice for over 14 years. She specializes in hemangiomas, birthmarks, vascular anomalies, and neurocutaneous syndromes. Her research interests are in hemangiomas and the related multiple congenital anomaly syndrome, PHACE (Posterior Fossa anomalies, Hemangiomas, Arterial anomalies, Cardiac defects, and Eye anomalies), RASopathies and health disparities.
- Pediatric Dermatology
Board Certification: American Board of Dermatology, Pediatric Dermatology (2008)
Fellowship: UCSF Dept of Dermatology (2007) CA
Board Certification: American Board of Dermatology, Dermatology (2006)
Residency: UCSF Dept of Dermatology (2006) CA
Residency: UCSF Benioff Childrens Hospital Pediatric Residency (2000) CA
Medical Education: University of Wisconsin Madison Office of the Registrar (1998) WI
Equity in Education
Current Research and Scholarly Interests
To learn more about our research and community outreach programs visit our laboratory website at: https://med.stanford.edu/dawn-siegel-lab.html
Skin Community Outreach for Research and Education (SCORE)
Skin Community Outreach for Research and Education (SCORE) is an interactive workshop for teens. By developing partnerships with community groups, community health centers, and school districts, we are creating educational workshops to demonstrate opportunities in health science careers, and then develop targeted interventions to support the student’s journeys. The hands-on workshops also teach important lessons in skin cancer awareness and prevention.
Redwood City, CA
Presenting characteristics and progression of pediatric-onset morphea: Interim analysis of a prospective registry.
Morphea is a rare fibrosing disorder with a highly variable disease course, which can complicate management. Here, we present a prospective cohort study describing the current treatments used in the management of pediatric-onset morphea and assessing responses to systemic and topical therapies. Most patients demonstrated inactive disease by 1 year, regardless of treatment, though recurrences were common in our cohort overall (39%). Our results support the need for continuous monitoring of all children with morphea following the completion of treatment, including topical treatment, due to high rates of disease relapse.
View details for DOI 10.1111/pde.15350
View details for PubMedID 37317938
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2023; 143 (6): 1042-1051.e3
Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood. We go on to show that the same variants can cause either the pigmentary or vascular phenotypes alone, and drive melanoma development within pigmentary lesions. Protein structure modeling highlights that although variants lead to loss of function at the level of the phosphatase domain, resultant conformational changes promote longer ligand binding. In vitro modeling of the missense variants confirms downstream MAPK pathway overactivation and widespread disruption of human endothelial cell angiogenesis. Importantly, patients with PTPN11 mosaicism theoretically risk passing on the variant to their children as the germline RASopathy Noonan syndrome with lentigines. These findings improve our understanding of the pathogenesis and biology of nevus spilus and capillary malformation syndromes, paving the way for better clinical management.
View details for DOI 10.1016/j.jid.2022.09.661
View details for Web of Science ID 001010699700001
View details for PubMedID 36566878
- Papillomas of Costello syndrome are not associated with human papillomavirus (HPV) infection in a small case series. Journal of the American Academy of Dermatology 2023
Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.
Olmsted syndrome (OS) is a rare genetic disorder, characterized by painful palmoplantar keratoderma (PPK), periorificial and intertriginous hyperkeratoses, and alopecia. Fewer than 75 cases have been described. Variants in TRPV3 result in constitutive activation of transient receptor potential vanilloid 3, leading to increased epidermal growth factor receptor (EGFR) signaling, palmoplantar epidermal hyperproliferation, and exquisite lesional pain. We describe pre-school aged twins with OS with partial improvement from oral erlotinib, an EGFR inhibitor, but dramatic reduction of their persistent palmoplantar thickening and pain from adding acitretin.
View details for DOI 10.1111/pde.15264
View details for PubMedID 36709954
Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
2022; 39 (6): 914-919
Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or with other associations, including glaucoma and leptomeningeal angiomatosis (i.e., Sturge-Weber syndrome) or pigmentary birthmarks (i.e., phakomatosis pigmentovascularis). The use of targeted genetic sequencing has revealed that postzygotic somatic variations in GNAQ and GNA11 at codon 183 are associated with CMs. We report five patients with early-onset hypertension and discuss possible pathogenesis of hypertension.Twenty-nine patients with CMs, confirmed GNAQ/11 postzygotic variants, and documented past medical history were identified from a multi-institutional vascular anomalies study. Early-onset hypertension was defined as hypertension before the age of 55 years. Clinical data were reviewed for evidence of hypertension, such as documentation of diagnosis or elevated blood pressure measurements.Five of the 29 patients identified as having GNAQ/11 postzygotic variants had documented early-onset hypertension. Three individuals harbored a GNAQ p.R183Q variant, and two individuals harbored a GNA11 p.R183C variant. All individuals had extensive cutaneous CMs involving the trunk and covering 9%-56% of their body surface area. The median age of hypertension diagnosis was 15 years (range 11-24 years), with three individuals having renal abnormalities on imaging.Early-onset hypertension is associated with extensive CMs harboring somatic variations in GNAQ/11. Here, we expand on the GNAQ/11 phenotype and hypothesize potential mechanisms driving hypertension. We recommend serial blood pressure measurements in patients with extensive CMs on the trunk and extremities to screen for early-onset hypertension.
View details for DOI 10.1111/pde.15103
View details for PubMedID 36440997
Development of an artificial intelligence algorithm for the diagnosis of infantile hemangiomas.
Prompt and accurate diagnosis of infantile hemangiomas is essential to prevent potential complications. This can be difficult due to high rates of misdiagnosis and poor access to pediatric dermatologists. In this study, we trained an artificial intelligence algorithm to diagnose infantile hemangiomas based on clinical images. Our algorithm achieved a 91.7% overall accuracy in the diagnosis of facial infantile hemangiomas.
View details for DOI 10.1111/pde.15149
View details for PubMedID 36164801
- Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11 PEDIATRIC DERMATOLOGY 2022
- Reply to: "Photodistributed toxic epidermal necrolysis in association with lamotrigine and tanning bed exposure". JAAD case reports 2022; 23: 164-165
Executive Summary: Consensus Recommendations for the Use of Retinoids in Ichthyosis and Other Disorders of Cornification in Children and Adolescents.
Journal of the American Academy of Dermatology
Topical and systemic retinoids are often used long-term in the treatment of ichthyoses and other disorders of cornification. The Pediatric Dermatology Research Alliance (PeDRA) Use of Retinoids in Ichthyosis Work Group was formed to address the numerous clinical concerns with use of these medications in children and adolescents and to establish best practices regarding the use of retinoids. Consensus was achieved using the Delphi process with recommendations based on the best available evidence and expert opinion. An executive summary of the results is presented herein.
View details for DOI 10.1016/j.jaad.2021.08.047
View details for PubMedID 34499997
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long-term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally, potential psychiatric and cardiovascular effects need to be considered. Contraceptive concerns, as well as the additive cardiovascular and bone effects of systemic retinoid use with hormonal contraception must also be deliberated for patients of childbearing potential. The Pediatric Dermatology Research Alliance (PeDRA) Use of Retinoids in Ichthyosis Work Group was formed to address these issues and to establish best practices regarding the use of retinoids in ichthyoses based on available evidence and expert opinion.
View details for DOI 10.1111/pde.14408
View details for PubMedID 33169909
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
American journal of medical genetics. Part A
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.
View details for DOI 10.1002/ajmg.a.61270
View details for PubMedID 31222966
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2016; 170 (8): 1959-1966
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.
View details for DOI 10.1002/ajmg.a.37723
View details for PubMedID 27155140
- Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) Conference JOURNAL OF INVESTIGATIVE DERMATOLOGY 2014; 134 (11): 2671-2674