PeDRA

Pediatric Dermatology Research Alliance

Skin Tumors and Reactions to Cancer Therapies

Pilot study of novel therapy for the treatment of disfiguring congenital melanocytic nevi

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Principal Investigator:

Yakir Levin, MD, PhD
Massachusetts General Hospital

Overview:

Congenital melanocytic nevi (CMN), depending on their size and location, can result in significant psychosocial morbidity. The most disfiguring lesions are the most difficult to resect surgically. Non-surgical treatment — if any — must be tailored to the needs of the individual patient and their family and usually involves many interventions performed under general anesthesia. The possibility of recurrence and of treatment-associated scarring always exists. There is a need for treatment that improves the appearance of the lesions with fewer treatments and with less risk of scarring.

Melanocytes, the cells of which CMN are composed, are known to be more sensitive to cold temperatures than other skin cells such as keratinocytes and fibroblasts. Controlled cooling is therefore a potentially attractive option for treating CMN. This work aims to explore the potential role of topically applied controlled cooling to the treatment of CMN.

Status:

This project was funded by a 2022 PeDRA Research Grant.

Hypopigmented mycosis fungoides True lymphoma or T-cell dyscrasia: A Retrospective and prospective cohort study

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Fellow

Yaron Noam Zafrir
SickKids Hospital – Toronto, Canada

Mentor

Elena Pope, MD
SickKids Hospital – Toronto, Canada

Overview

The most common CTCL in children is hypopigmented mycosis fungoides (HMF). Since its first description a large number of HMF cases were reported to have unusual clinical and pathological findings, questioning the true nature of HMF as CTCL. It has been suggested to separate HMF from MF and to define those cases as cutaneous T cell lymphoid dyscrasias (CTLD), with dyscrasia representing an abnormal or unbalanced state rather than true cancer. Our hypothesis is that a subset of patients with MF, particularly those with a HMF, could be reclassified as hypopigmented T-cell dyscrasia. We propose to conduct a retrospective and prospective cohort study to determine whether childhood HMF is a CTCL or CTLD.
Expanding our understanding regarding presentation, pathological patterns, clinical course, management and follow ups will enable physicians to label these patients correctly and alleviate a lot of the anxiety associated with a cancer diagnosis.

Status

This project was funded through a 2022 PeDRA Research Fellowship Grant.

Characterizing the Cutaneous Late Effects in Pediatric Hematopoietic Stem Cell Transplantation Recipients

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Principal Investigator:

Rebecca Levy, MD, FRCPC
Hospital for Sick Children, Toronto

Overview:

Hematopoietic stem cell transplantation (HSCT) is a procedure used to cure a variety of potentially fatal diseases, including cancers and genetic conditions. For HSCT survivors, we now understand there exist a variety of long-term complications that can impact different parts of the body, including the skin. The late skin complications of children who have undergone HSCT are poorly understood. This project aims to analyze data from linked provincial databases to define the risks and predictors of skin cancers in individuals who underwent HSCT at the Hospital for Sick Children. Furthermore, the project aims to enroll children from our specialized HSCT Late Effects clinic to better understand the spectrum of skin diseases, factors that might predict for these diseases, and determine impacts on overall quality of life. Ultimately, we hope that this study will improve the recognition and management of skin diseases in pediatric HSCT recipients to improve their overall care.

Status:

This project was funded by a 2021 Weston Career Development Award.

Noninvasive Molecular Diagnostic Tests for Pediatric Pigmented Lesions

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Principal Investigator:

Elena Hawryluk, MD, PhD
Massachusetts General Hospital

Overview:

This research proposal seeks to better understand moles in children: features that may prompt concern for a skin biopsy, and the natural characteristics of nevi from patients with diverse skin pigmentation. For the first aim, an exciting non-invasive tape test is used on pediatric lesions that are being biopsied, to determine whether the same signals that are useful to detect melanoma in adults are found in lesions from children. This test is promising to improve our detection of melanoma and reduce skin biopsies and procedures in children when they are not necessary. The second aim focuses on the documentation of the appearance of pigmented birthmarks in patients with a variety of skin tones. It is expected that pigmented lesions have very diverse features that may be appreciated and documented, and this effort will improve our understanding of normal moles and how they change naturally over time.

Status:

This project was funded by a 2021 Career Bridge Research Grant.

A Multi-Center Retrospective Cohort Study on the Utility of Ancillary Studies in the Risk Assessment and Management of Spitz Nevi, Atypical Spitzoid Tumors, and Spitzoid Melanoma in the Pediatric Population

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Principal Investigator:

Kristen Berrebi, MD
University of Iowa Health Care

Overview:

Spitz tumors are melanocytic proliferations seen in children and are divided into three categories along a spectrum: (1) benign Spitz nevus, (2) atypical Spitz tumor, and (3) Spitzoid melanoma. The current gold standard for diagnosis is biopsy. Identification of Spitzoid melanoma is important because diagnosis and appropriate treatment can prevent morbidity and mortality, but the differentiation between this spectrum of lesions remains a challenge.

Additional immunohistochemical and molecular/genetic studies have been developed for further characterization of these lesions, however their utility is not well-defined.. Clinical uncertainty arises when benign histopathologic features do not align with results of these studies.

This study aims to pool data for patients with Spitzoid neoplasms in an effort to evaluate how these aforementioned ancillary studies affect clinical plan and outcome. We hope to identify the value and cost effectiveness of these studies with a future goal of determining treatment guidelines of Spitzoid neoplasms.

Status:

This project was funded by a 2020 PeDRA Research Grant.

Beyond the phenotype – A targeted sequencing study to identify the spectrum of genetic mutations in pyogenic granulomas

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Principal Investigator:

Carrie Coughlin, MD
Washington University School of Medicine in St. Louis

Overview:

Pyogenic granulomas are benign growths of blood vessels which can grow quickly and bleed. It can be difficult to stop the bleeding, which can make them an urgent problem. Their primary treatment is surgical, which carries the risks of infection, scarring, and recurrence. Therefore, understanding the changes that occur in the DNA of these growths may lead to better medicines to treat them and avoid the potential side effects of surgery. In this study, we propose examining the DNA of 60 previously removed pyogenic granulomas to investigate for the presence of spontaneous mutations in 177 different genes which may have caused the formation of these benign growths. These 60 samples will be representative of diversity in age, sex, and location on the body to provide the best profile of DNA mutations to inform the future development of targeted medicines.

Status:

This project was funded by a 2020 PeDRA Research Grant.

Keratinocyte Carcinoma in Pediatric Solid Organ Transplant Patients

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Fellow

Muskaan Sachdeva, BHSc
University of Toronto

Mentor

Cathryn Sibbald, MScPhm, MD, FRCPC, MSc
University of Toronto
The Hospital for Sick Children

Overview

Keratinocyte carcinomas (KC), which include basal cell and squamous cell carcinomas, are the most common malignancy in organ transplant recipients. Specifically, the incidence of basal cell carcinoma is 10 times higher, and squamous cell carcinoma is 100 times more frequent in adult transplant recipients than the general population. Although the success of transplants has vastly improved for children, limited research exists on the risk of post-transplant KC in pediatric populations, with a recent study excluding these cancers. Pediatric transplant patients are immunocompromised for longer durations than patients transplanted in adulthood, and therefore the onset of KC in pediatric transplant recipients may occur at an earlier age. Analysis of specific pediatric data is important to fully quantify and understand the risk of KC in this population.

Status

This project was funded through a 2020 PeDRA Research Fellowship Grant.

The impact of dilute bleach compresses on the incidence and severity of radiation dermatitis

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Fellow

Danny Linggonegoro
Harvard Medical School

Mentor

Jennifer Huang, MD
Harvard Medical School

Overview

Acute radiation skin toxicity is one of the most common side effects encountered in those undergoing radiation therapy, affecting nearly all patients; however, no standard criterion currently exists for the prevention of acute radiation induced skin toxicity.
This study aims to:
1. Determine if dilute bleach compresses can attenuate the incidence and severity of radiation dermatitis.
2. Evaluate and describe patient-reported outcomes.

Status

This project was funded through a 2020 PeDRA Research Fellowship Grant.