Cutaneous mosaic RASopathies associated with rhabdomyosarcoma. Pediatr Blood Cancer. 2022;69(5):e29639. 

We presented three novel pediatric cases and 15 previously reported cases that highlight the rare association of RAS-driven birthmarks (such as nevus sebaceous and congenital melanocytic nevi) and rhabdomyosarcoma. This report is the largest cohort of patients with mosaic RASopathies and RAS-driven rhabdomyosarcoma reported together.

Facing PHACE Twenty-five Years Later: Review and Perspectives on Management. J. Vasc. Anom. 2021; 2(4), doi: 10.1097/JOVA.0000000000000027

Since first descriptions of PHACE 25 years ago, the scientific and medical communities have made strides in understanding and developing best practice approaches to diagnosis, outcomes, and surveillance. In this paper, we highlight the evaluation, management, current gaps in knowledge, and potential next steps in research and patient-centered care of PHACE Syndrome.

Diversity in pediatric dermatology: A report from the Pediatric Dermatology Research Alliance and a call to action. Pediatr Dermatol. 2021;38 Suppl 2:96-102. doi:10.1111/pde.14756

Dr. Siegel was previously the president-of the Pediatric Dermatology Research Alliance (PeDRA). In this study, PeDRA conducted an analysis of the composition of PeDRA’s membership, leadership, grant awardees, and research topics and discuss PeDRA’s next steps in our efforts to diversify our organization.

Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes. Pediatr Dermatol. 2020;37(1):78-85. doi:10.1111/pde.14006

In this study, we examined the histo‐pathologic features of midline anomalies associated with infantile hemangioma (IH). Study participants were mainly identified through the PHACE Registry, the Hemangioma Investigator Group (HIG), and the Pediatric Dermatology Research Alliance (PeDRA). We showed a new association between PHACE syndrome and rhabdomyomatous mesenchymal hamartoma (RMH), in addition to demonstrating the association between PHACE syndrome and chin hamartomas.

Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome. JAMA Dermatol. 2020;156(2):186-190. doi:10.1001/jamadermatol.2019.3839

This multi-center study investigated the safety of oral propranolol for the treatment of infantile hemangioma in patients with PHACE Syndrome. The results of this study support the general safety of oral propranolol for infants with PHACE.

Dental root abnormalities in four children with PHACE syndrome. Pediatr Dermatol. 2019;36(4):505-508. doi:10.1111/pde.13818

We described four children with PHACE syndrome who have confirmed abnormalities of dental roots in permanent first molars (PFMs). Based on these cases, we recommended a panoramic dental x-ray during transitional dentition for children with PHACE syndrome to screen for dental root abnormalities.

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 2018;176(1):48-55. doi:10.1002/ajmg.a.38523

We analyzed MRI scans of the head/neck of 55 patients from the PHACE Registry to better characterize the spectrum of intracranial anomalies in PHACE syndrome. Brain malformations were present in 35% of patients and included a variety of lesions both within and outside the posterior fossa. We also observed abnormalities of the pituitary gland and globes. This is important to raise awareness to monitor for growth hormone deficiency in PHACE.

Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository. J Pediatr. 2017;190:275-279. doi:10.1016/j.jpeds.2017.06.055

We conducted a cross-sectional analysis of 218 individuals enrolled in the PHACE Registry and examined potential prenatal risk factors for PHACE syndrome. Rates of pre-eclampsia and placenta previa in affected individuals were significantly higher than in the general population.  We did not identify associations with prenatal medications.

Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome. J Child Neurol. 2016;31(4):468-473. doi:10.1177/0883073815599261

Through a cross-sectional survey of individuals in the PHACE Registry, we characterized the clinical features and prevalence of headache in patients with PHACE syndrome. The study showed that headaches are prevalent among individuals with PHACE, and that the headaches can be severe and cause substantial headache-related disability.

PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr. 2016;178:24-33.e2. doi:10.1016/j.jpeds.2016.07.054

Dr. Siegel and other PHACE syndrome experts across the US and Canada came together to address questions on PHACE syndrome diagnostic guidelines, screening recommendations, and health surveillance based on evidence gathered from clinical experience and a review of published, peer-reviewed medical literature.

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development. Br J Dermatol. 2012;166(3):601-607. doi:10.1111/j.1365-2133.2011.10744.x

We conducted a systematic evaluation of 46 individuals with Costello Syndrome (CS) with confirmed HRAS mutations and quantified their specific cutaneous phenotypes. Compared to cardio-facio-cutaneous syndrome (CFC) features, distinctive cutaneous features of CS include 1) cutaneous papillomas, most often located on or around the nose, 2) full, thick eyebrows, 3) loose, redundant skin and deep creases on the hands and feet, 4) stippled dermatoglyphs on the fingertips, and 5) generalized hyperpigmentation. 

Management of infantile hemangiomas during the COVID pandemic. Pediatr Dermatol. 2020;37(3):412-418. doi:10.1111/pde.14196

As a part of the Hemangioma Investigator Group (HIG), Dr. Siegel and other hemangioma experts provided guidance on timely treatment for patients with hemangiomas while prioritizing patient safety during the COVID-19 pandemic. While acknowledging the benefits of in-person visits, the group consensus was that telehealth visits during the pandemic could provide an alternative method of evaluation and treatment as long as there are safeguards to minimize risks.