Birthmark Studies

Principal Investigator:

Marcia Hogeling, MD – UCLA

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.

Overview:

There are growing reports regarding the efficacy of oral M-TOR inhibitors such as sirolimus in the treatment of complex combined vascular malformations. There is strong rationale for the use of sirolimus/M-TOR inhibitors in this setting given the genetic basis for many vascular malformations (including lymphatic malformations) which involve the PIK3CA signaling pathway. The use of topical sirolimus preparations have also been reported useful in the setting of facial angiofibromas and capillary malformations . We gathered retrospective data on the use of topical sirolimus for treatment of superficial vascular anomalies.

Status:

Manuscript submitted for publication.

Principal Investigators:

Victoria Barrio, MD – Rady Children’s Hospital
Colleen Cotton, MD – Medical University of South Carolina

Overview:

This is a retrospective, multicenter study across fifteen sites in the US and Canada examining all children who were evaluated for PHACE syndrome (whether or not they ultimately received the diagnosis) over a five year period. Objectives of the study are to assemble a multicenter retrospective cohort of patients with large facial hemangiomas evaluated for PHACE syndrome with data regarding epidemiology, hemangioma characteristics, and comorbid anomalies; to perform sub-group analyses of the categories outlined above by hemangioma depth and location, including parotid hemangiomas; and to determine the positive predictive value of clinical features that will provide more data-driven and cost-effective screening of children with large facial hemangiomas.

Status:

Data collection is complete and two manuscripts are in preparation.

This project received a 2019 PeDRA Study Support Grant to perform further statistical analysis to help identify clinical features that may be associated with high or low risk phenotypes in patients diagnosed with PHACE. The team also hopes to compare complication rates and treatment between PHACE and non-PHACE patients with large facial hemangiomas. All statistical analysis is being performed at the Children’s Hospital of Philadelphia.

Principal Investigator:

Esteban Fernandez Faith, MD – Nationwide Children’s Hospital

Overview:

The goal of the study is to assemble a large cohort of patients with ulcerated infantile hemangiomas to better characterize this complication in the era of beta-blockers. The study aims to determine the efficacy of different treatment interventions and attempt to identify clinical prognostic indicators of ulceration healing. To accomplish these goals, a multi-center retrospective cohort study will be performed.

This collaborative study will provide useful data for clinicians who routinely confront the dilemma of ulcerated infantile hemangiomas in practice. By establishing the risk factors for recalcitrant ulceration and determining the most effective treatment, clinicians will be better prepared to counsel families and care for infants with this unfortunate complication.

Status:

Funded as a 2016 SPD-PeDRA Team Grant. Manuscript currently being prepared for publication.

Principal Investigator:

Kevin Yarbrough, MD – Phoenix Children’s Hospital

Overview:

This was a retrospective study exploring the effectiveness of electrocardiograms prior to treatment for screening infants considered for systemic propranolol treatment.

Status:

Complete. This study resulted in a 2016 publication in Pediatric Dermatology.

Principal Investigator:

Dawn Siegel, MD – Medical College of Wisconsin

Overview:

This is a registry study, using next generation sequencing to better understand somatic mosaicism in PHACE Syndrome.

Status:

Enrollment ongoing.

Principal Investigator:

Beth Drolet, MD – University of Wisconsin

Overview:

This study is investigating somatic mosaicism in cutaneous vascular anomalies and related syndromes.

Status:

Enrollment ongoing.