Publications by authors named "Elena Pope"
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFBackground: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.
Article Synopsis
- A study was conducted to compare infantile hemangiomas (IH) in preterm infants versus term infants, focusing on their clinical features and risks of scarring.
- Results showed that preterm infants had a higher incidence of thicker and more irregular IH than term infants, with the severity correlating with how premature they were.
- The study had limitations, including its retrospective design and potential bias from only including patients from specialized centers, indicating that findings may not apply to all cases.
Article Synopsis
- Patients with recessive dystrophic epidermolysis bullosa (RDEB) often suffer from neuropathic pain and itch, but there is limited evidence on effective treatments for these symptoms.
- A randomized, double-blinded crossover trial was conducted to evaluate the efficacy of pregabalin (50-300 mg/d) compared to a placebo in treating these symptoms in RDEB patients aged 8 to 40.
- The study included 10 participants who received both treatments in a randomized order, and the main outcome measured was the difference in pain and itch scores using a visual analog scale before and after the interventions.
Article Synopsis
- This project gathered experts to create guidelines for treating a skin condition called pediatric Mycosis fungoides (MF), which is different from how adults are treated.
- They talked about important factors that go beyond just measuring the size of the disease, like itching, how it affects daily life, and feelings of worry or embarrassment.
- The team made 10 recommendations for managing both early and advanced stages of pediatric MF, but they still need more information on how to treat the later stages properly.
Importance: Detecting activity of morphea can be complex but is crucial for adequate treatment and outcome assessment. The Morphea Activity Measure (MAM) was recently validated, but its responsiveness to change in disease activity has not been studied.
Objective: To evaluate the internal and external responsiveness of MAM to changes in disease activity in pediatric patients.
Aim: To describe the rates of stroke and craniocervical vasculopathy progression in children with posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACE) syndrome.
Method: A single-center, retrospective natural history study of children with PHACE syndrome. Clinical and sequential neuroimaging data were reviewed to study the characteristics and progression of vasculopathy and calculate the rates of arterial ischemic stroke (AIS) and transient ischemic stroke (TIA).
Dermatitis versus nonaccidental trauma: A systematic review of initial pediatric misdiagnoses.
Pediatr Dermatol
August 2024
Article Synopsis
- Pediatric dermatitis and nonaccidental trauma (NAT) can look similar on the skin, which can lead to misdiagnosis and harm to kids.
- A systematic review of literature identified 29 pediatric cases that were investigated for both conditions, revealing that many misdiagnosed patients actually had different forms of dermatitis.
- Key findings suggest that thorough patient history and examination are crucial for correct diagnosis, and the review acknowledged its own limitations, like potential underreporting and low-quality studies.
Article Synopsis
- Patient-Related Outcome Measures (PROMs) like iscorEB allow patients with epidermolysis bullosa (EB) to share their personal health experiences, which is crucial for understanding this complex disease.
- The iscorEB tool includes both a clinician score and a patient questionnaire, aiming to assess and improve health outcomes for EB patients.
- The iscorEB-p demonstrated excellent reliability and validity in a study with 95 participants, confirming its usefulness in capturing the health status and daily experiences of individuals with EB.
Objective: To characterize long-term outcomes of PHACE syndrome.
Study Design: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics.
Objective: Juvenile localized scleroderma (jLS) is a chronic autoimmune disease commonly associated with poor outcomes, including contractures, hemiatrophy, uveitis, and seizures. Despite improvements in treatment, >25% of patients with jLS have functional impairment. To improve patient evaluation, our workgroup developed the Localized scleroderma Total Severity Scale (LoTSS), an overall disease severity measure.
View Article and Find Full Text PDFEvaluation of Methotrexate Intolerance in Children With Morphea.
J Pediatr Pharmacol Ther
October 2023
Objective: Methotrexate is an immunosuppressant commonly used in dermatology. The prevalence of intolerance using the Methotrexate Intolerance Severity Score (MISS) in pediatric juvenile idiopathic arthritis (JIA) ranges from 25% to 75%, but studies in morphea patients are lacking. We sought to determine the prevalence and predictors of methotrexate intolerance in children with morphea compared with children with inflammatory skin diseases and JIA/uveitis.
View Article and Find Full Text PDFBackground: Pediatric melanoma presents with distinct clinical features compared to adult disease.
Objective: Characterize risk factors and negative outcomes in pediatric melanoma.
Methods: Multicenter retrospective study of patients under 20 years diagnosed with melanoma between January 1, 1995 and June 30, 2015 from 11 academic medical centers.
Article Synopsis
- * This study analyzed 11 pediatric patients diagnosed with localized SSS over a period from 1988 to 2021, using clinical data and imaging techniques to understand the disease better.
- * Results showed distinctive imaging features, with MRI revealing high signal intensity in affected areas, and highlighted shear wave ultrasound elastography (SWE) as a useful, noninvasive method for assessing and monitoring skin stiffness in SSS and potentially other pediatric skin conditions.
Article Synopsis
- Ulceration is a problem that can happen with a type of growth called infantile hemangioma (IH), and this study looks at severe cases of it.
- The researchers studied 35 patients and found that large hemangiomas with thin tops were most often linked to aggressive ulceration, especially in certain body areas.
- Understanding these different types of IH and their ulceration patterns can help doctors treat kids better by spotting which ones might have more serious problems.
Introduction: The need for pediatric dermatology services is increasing across Canada. In parallel, the complexity of treatment with novel targeted therapeutics has increased. Currently, there is no accredited and limited non-accredited fellowship training access to pediatric dermatology in Canada.
View Article and Find Full Text PDFSystematic Review of Health-Related Quality of Life Impact in Juvenile Localized Scleroderma.
Arthritis Care Res (Hoboken)
March 2024
Objective: The prevalence and types of psychosocial complications of juvenile localized scleroderma (JLS), also known as morphea, an inflammatory and sclerosing disease involving the skin, fascia, muscle, and bone, are poorly understood.
Methods: We performed a systematic review of literature published between 2000 and 2020 in PubMed, EMBASE, the Cochrane Skin Group Specialized Register, the Cochrane Central Register of Controlled Trials, and the Cumulative Index to Nursing and Allied Health Literature using the search terms "scleroderma, localized," "Morphea," "anxiety," "depression," "resilience," "social stigma," "quality of life," "mood," or "stress" and limited the search to pediatric patients and English language. Patient demographics, characteristics of JLS, and comorbidities were extracted.
Background: Alopecia areata (AA) is associated with negative impacts on the quality of life (QoL). Data on this impact are lacking for Canadian patients and their caregivers.
Objective: This study aims to investigate the burden of AA on Canadian patients and their caregivers.
Article Synopsis
- The most frequently found bacteria in wound cultures of Epidermolysis Bullosa patients are Staphylococcus aureus and Pseudomonas aeruginosa.
- Researchers focused on analyzing patients with wound cultures that tested positive for Pseudomonas aeruginosa due to its prevalence and potential link to cancer development.
- The study aims to provide insights for future research and improvement in wound care strategies for those with Epidermolysis Bullosa.
Coronavirus Disease 2019-Related Oral Reactive Infectious Mucocutaneous Eruption.
J Dent Child (Chic)
September 2022
Article Synopsis
- * Oral ulcerative lesions are increasingly observed in COVID-19 patients, exhibiting different severities and types.
- * Health care professionals need to be aware of these oral manifestations to effectively document, monitor, and refer patients to the proper specialists for treatment.