Long-term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome.

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). Vasculopathy progression was defined as worsening or new vascular findings on follow-up magnetic resonance angiography. RESULTS: Thirty-four children with cerebrovascular abnormalities at the PHACE syndrome diagnosis were studied (age range = 2 to 18 years, 85% females). Median age at the initial diagnosis was 5.5 months (interquartile range = 1-52 months); median age at the last follow-up was 8 years 6 months (range = 2-18 years). Overall, 10 (29%) patients had radiological progression of their vasculopathy, with a cumulative progression-free rate of 73% (95% confidence interval [CI] = 0.57-0.89), and a cumulative TIA-free and AIS-free rate of 87% (95% CI = 0.745-0.99). Vasculopathy was continuously progressive in six patients (18%) at the last follow-up. Three patients (9%) had TIA and all had progressive vasculopathy. One patient had presumed perinatal AIS at the initial PHACE diagnosis, while no other patient experienced an AIS during the follow-up. INTERPRETATION: In children with PHACE syndrome, craniocervical vasculopathy is non-progressive and asymptomatic in the majority of cases. The risk of ischemic stroke in these children is very low. Larger and prospective studies are necessary to confirm these findings.

Dermatitis versus nonaccidental trauma: A systematic review of initial pediatric misdiagnoses.

BACKGROUND/OBJECTIVES: Pediatric dermatitis and nonaccidental trauma (NAT) may have overlapping cutaneous presentations, posing a risk of misdiagnosis and subsequent emotional distress and further harm. Through a systematic literature review, we reviewed pediatric (<18 years old) patients investigated for both dermatitis and NAT. METHODS: EMBASE and MEDLINE databases were searched. English publications with original data involving pediatric patients investigated for both dermatitis and NAT were included. Nonhuman studies and incomplete articles/conference abstracts were excluded. Data extracted included the first author, year of publication, study design, participant count, sex of the population, age of the population, cutaneous presentation, timing of presentation, Child Protective Services involvement, and case relation to dermatitis and NAT. RESULTS: This review included 21 case reports or series encompassing 29 patients. Among 26 patients initially investigated as NAT (26.9% involving Child Protective Services), final diagnoses included irritant contact dermatitis (53.8%), phytophotodermatitis (30.8%), allergic contact dermatitis (7.7%), perianal infectious dermatitis (3.8%), and atopic dermatitis (3.8%). Three patients initially diagnosed with nontraumatic dermatitis were later found to be victims of physical (2/3; 66.7%) or sexual abuse (1/3; 33.3%). CONCLUSIONS: Effective history-taking and physical examinations should encompass a history of laxative use, contact with furocoumarin-containing plants/fruit, parallel family/peer cutaneous presentations, caregiver involvement, financial burden, patient discomfort, birthmark assessment, and lesions aligning with diaper borders or toilet seats. Limitations of this review include potential underreporting and the inclusion of low-quality study designs and evidence.

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

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. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

iscorEB-p: A patient-reported outcome measure for Epidermolysis bullosa. Psychometric properties of the Patient Score from the Instrument for Scoring Clinical Outcome of Research for EB.

BACKGROUND: In contrast to clinical diagnosis via external examination, patient-related outcome measures allow to access the patients' internal perception. Particularly, in the case of epidermolysis bullosa (EB), a rare disease characterized by a wide variety of symptoms and individual courses of disease, it is central to integrate the patient's perspective into diagnostic processes. OBJECTIVES: The Instrument for Scoring Clinical Outcome of Research for EB (iscorEB) is an EB-specific measurement tool, combining a clinician score (iscorEB-c) and a patient questionnaire (iscorEB-p). The aim of this study is to establish the iscorEB-p as an independent patient-related outcome measure tool by exploring its psychometric properties. METHODS: The following steps were performed on data collected via a multinational online cross-sectional study: sample-based psychometric testing and evaluation. RESULTS: Data analysis was performed with n=95 participants across all EB types. The reliability and internal consistency of the iscorEB-p was excellent (α=0.90). A principal component analysis with a varimax rotation resulted in a two-factor solution, explaining 55.6% of the total variance, with the distinct factors "everyday life functioning" and "specific EB symptoms". Convergent validity was shown by high correlations to the SWLS (r=-0.52, p<0.001), the QOLEB (r=0.72, p<0.001) and EB-BoD (r=-0.73, p<0.001). CONCLUSIONS: In conclusion, the iscorEB-p is a reliable and valid instrument to assess the patient-reported view on the health status of EB patients.

Characteristics and onset of presentation of pediatric stiff skin syndrome: A retrospective cohort study of 11 patients in a tertiary care center.

BACKGROUND/OBJECTIVE: Stiff skin syndrome (SSS) is a rare disorder characterized by "rock hard" indurated skin affecting different body parts. The localized variant poses a diagnostic challenge, as it is frequently mistaken for other inflammatory connective tissue disorders. The aim of this study is to provide insightful clinical, radiologic and diagnostic data that might prove useful for the evaluation, management and treatment of pediatric patients with segmental SS. METHODS: This single-center cohort study included patients ≤18 years diagnosed with localized SSS from 1988 to 2021 in a quaternary pediatric healthcare center in Toronto, Canada. Data included demographics, clinical, histopathologic and radiologic features, treatments, and clinical course. Data were summarized with descriptive statistics (mean, standard deviation, medians, interquartile ranges [IQRs]) and frequencies. RESULTS: A total of 11 patients were included. The sclerotic changes were measured clinically and radiologically, by a total of 16 imaging studies: 13 magnetic resonance imaging (MRI) and 3 ultrasound. MRI readings showed abnormal high signal intensity of the affected tissue correlating with the anatomical site of involvement in all cases, specifically, in the shoulder/pelvic girdle with limb extension. Shear wave ultrasound elastography (SWE) demonstrated higher values within the dermis compared to the control site. CONCLUSION: The presence of segmental sclerotic changes that affects the pelvic/shoulder girdle with extension to the extremities, in the absence of inflammation on biopsy and abnormal signaling intensity on imaging is suggestive of SSS. Skin SWE is a feasible, noninvasive, and objective instrument to evaluate and monitor sclerotic changes overtime, it could be potentially extrapolated to other pediatric skin sclerotic conditions.

Systematic Review of Health-Related Quality of Life Impact in Juvenile Localized Scleroderma.

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. The outcomes included measures of health-related quality of life (HRQoL), psychosocial functioning, evaluation of self-perception, and the treatment burden of the study population. The protocol was registered with PROSPERO (CRD42021257124). Thematic synthesis generated descriptive analysis. RESULTS: Thirteen studies fulfilled the inclusion criteria: three retrospective cohort studies, two prospective cohort studies, and eight cross-sectional studies. A total of 690 pediatric patients with JLS were included (n = 484 with linear scleroderma). Six studies used the Children's Dermatology Life Quality Index, reporting little to no effect on HRQoL. One study used the Health-Related Quality of Life in Children and Adolescents Questionnaire and did not find differences between children with JLS or atopic dermatitis and healthy controls. One study used a self-perception questionnaire that showed normal self-worth of patients with JLS. Two studies used focus groups, both reporting elevated levels of stress, decreased self-worth, "feeling different," and bullying/teasing in patients with JLS. These emotions were associated with skin symptoms (pain, itch, and tightness), physical limitations, and treatment burden. CONCLUSION: Overall, quantitative studies did not report a statistically significant impairment in HRQoL in JLS. However, qualitative studies (focus groups) reported significant psychosocial impacts related to JLS. There is a need to develop a JLS-specific tool for the HRQoL evaluation of this population.

Capturing the Range of Disease Involvement in Localized Scleroderma: The Localized Scleroderma Total Severity Scale.

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. METHODS: LoTSS was developed as a weighted measure by a consensus process involving literature review, surveys, case vignettes, and multicriteria decision analysis. Feasibility was assessed in larger Childhood Arthritis and Rheumatology Research Alliance groups. Construct validity with physician assessment and inter-rater reliability was assessed using case vignettes. Additional evaluation was performed in a prospective patient cohort initiating treatment. RESULTS: LoTSS severity items were organized into modules that reflect jLS disease patterns, with modules for skin, extracutaneous, and craniofacial manifestations. Construct validity of LoTSS was supported by a strong positive correlation with the Physician Global Assessment (PGA) of severity and damage and weak positive correlation with PGA-Activity, as expected. LoTSS was responsive, with a small effect size identified. Moderate-to-excellent inter-rater reliability was demonstrated. LoTSS was able to discriminate between patient subsets, with higher scores identified in those with greater disease burden and functional limitation. CONCLUSION: We developed a new LS measure for assessing cutaneous and extracutaneous severity and have shown it to be reliable, valid, and responsive. LoTSS is the first measure that assesses and scores all the major extracutaneous manifestations in LS. Our findings suggest LoTSS could aid assessment and management of patients and facilitate outcome evaluation in treatment studies.

Risk factors and outcomes of melanoma in children and adolescents: A retrospective multicenter study.

BACKGROUND: 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. RESULTS: Melanoma was diagnosed in 317 patients, 73% of whom were diagnosed in adolescence (age ≥11). Spitzoid (31%) and superficial spreading (26%) subtypes were most common and 11% of cases arose from congenital nevi. Sentinel lymph node biopsy was performed in 68% of cases and positive in 46%. Fatality was observed in 7% of cases. Adolescent patients with melanoma were more likely to have family history of melanoma (P = .046) compared to controls. LIMITATIONS: Retrospective nature, cohort size, control selection, and potential referral bias. CONCLUSION: Pediatric melanoma has diverse clinical presentations. Better understanding of these cases and outcomes may facilitate improved risk stratification of pediatric melanoma.

Evaluation of Methotrexate Intolerance in Children With Morphea.

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. METHODS: Eligible patients were ages 2 to 18 years and were taking methotrexate for at least 3 months to treat morphea, inflammatory skin disease, or uveitis/JIA. Methotrexate intolerance was calculated using the MISS. A 1-way analysis of variance compared absolute intolerance scores. Multivariate regression analysis was used to compare MISS across diseases and covariates. RESULTS: Of 48 participants (mean ± SD age, 11.3 ± 4.1 years, 70.8% female), 15 had morphea, 16 had JIA/uveitis, and 17 had inflammatory skin diseases. The overall prevalence of intolerance was 20.8%. Age, sex, duration, and dose did not correlate with overall MISS. The MISS mean ± SD total for oral dosing was 2.5 ± 3.4, compared with 6.78 ± 6.8 for subcutaneous dosing. Patients with JIA/uveitis had the highest prevalence of intolerance (37.5%, n = 6), followed by morphea patients (20%, n = 3) and inflammatory skin disease patients (5.9%, n = 1). The OR of intolerance according to route of administration was 11.2 (95% CI, 2.03-61.89). CONCLUSIONS: Methotrexate intolerance was highest among patients with JIA/uveitis. The only predictor for risk of intolerance was subcutaneous route of administration. Future work could examine disease activity correlations and interventions designed to minimize intolerance.

Clinical characteristics of infantile hemangiomas with aggressive, persistent, and destructive ulceration.

BACKGROUND/OBJECTIVES: Ulceration is a common complication of infantile hemangioma (IH). Severe, persistent ulceration occurs in a minority of patients. This study aims to characterize the clinical features of IH with aggressive ulceration (AU). METHODS: Multicenter retrospective study of clinical features of IH with AU. RESULTS: Thirty-five patients with AU were identified and included in the study. The majority of AU occurred in segmental IH (23/35, 65%). Segmental IH with AU were large (≥10 cm2 ; 16/23, 69%, p < .001) with a thin (<3 mm) superficial component (16/23, 69%, p < .001). Localized IH with AU had a thick (>3 mm) superficial component (11/12, 92%, p < .001). All diaper area IH with AU (9/35) were segmental with thin superficial component (100%, p = .02). IH with AU in the head/neck (10/35) were more commonly localized (67%) and mixed (62.5%), while segmental, thick superficial morphology was more common on trunk (9/35) and upper extremities (7/35). CONCLUSIONS: IH resulting in AU differ in clinical features by anatomic site. Those in the diaper area are nearly always segmental with thin superficial component, whereas other sites tend to be localized, mixed, with thick superficial component. These distinct phenotypes may prove useful in the clinical setting for physicians to identify patterns of IH ulceration with increased risk of aggressive, persistent ulceration.

Pediatric Dermatology in Canada: A Broad Review of Population Needs, Workforce and Training With Proposed Solutions.

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. HYPOTHESIS: Understanding the current state of pediatric dermatology training in Canada will provide insight into opportunities for strategic improvement. METHODS: A survey was distributed to 44 pediatric dermatology providers. In addition, a review of the burden of pediatric skin disease and education/training in Canada was performed. RESULTS: Thirty-four specialists responded to the survey (77% response rate). One third of current pediatric dermatology providers are over 50 years old and half of these (15%) plan to retire within the next 5 years. Half of respondents were dermatologists, 35% were pediatricians, and 11% were double boarded. Almost all respondents practiced in an academic setting (94%). Most had further fellowship training in pediatric dermatology (82.4%) but only 57% achieved this training in Canada, due to lack of accredited or non-accredited funded fellowship positions. CONCLUSION: There is a high and growing need for pediatric dermatology specialty care in a diverse range of settings. The current provider population and training programs are insufficient to meet current and future demands. We highlighted solutions to close this gap between supply and demand including increased double board certification in Pediatrics and Dermatology, a protected pediatric stream within existing Dermatology residency training programs and accredited fellowships in Pediatric Dermatology for both dermatologists and pediatricians.

Characterization of wound microbes in epidermolysis bullosa: A focus on Pseudomonas aeruginosa.

The most common bacteria isolated from wound cultures in patients recorded in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) are Staphylococcus aureus and Pseudomonas aeruginosa. Given the prevalence of P. aeruginosa in this patient population and prior research implicating P. aeruginosa's potential role in carcinogenesis, we sought to further analyze patients with recorded wound cultures positive for Pseudomonas aeruginosa in the EBCCOD. We provide a descriptive analysis of this subset of patients and highlight potential avenues for future longitudinal studies that may have significant implications in our wound care management for patients with epidermolysis bullosa.

Development and Validation of the Morphea Activity Measure in Patients With Pediatric Morphea.

Importance: Morphea is an insidious inflammatory disorder of the skin and deeper tissues. Determining disease activity is challenging yet important to medical decision-making and patient outcomes. Objective: To develop and validate a scoring tool, the Morphea Activity Measure (MAM), to evaluate morphea disease activity of any type or severity that is easy to use in clinical and research settings. Design, Setting, and Participants: This pilot diagnostic study was conducted from September 9, 2019, to March 6, 2020, in 2 phases: development and validation. During the development phase, 14 morphea experts (dermatologists and pediatric dermatologists) used a Delphi consensus method to determine items that would be included in the MAM. The validation phase included 8 investigators who evaluated the tool in collaboration with 14 patients with pediatric morphea (recruited from a referral center [Medical College of Wisconsin]) during a 1-day in-person meeting on March 6, 2020. Main Outcomes and Measures: During the development phase, online survey items were evaluated by experts in morphea using a Likert scale (score range, 0-10, with 0 indicating not important and 10 indicating very important); agreement was defined as a median score of 7.0 or higher, disagreement as a median score of 3.9 or lower, and no consensus as a median score of 4.0 to 6.9. During the validation phase, reliability (interrater and intrarater agreement using intraclass correlation coefficients), validity (using the content validity index and κ statistics as well as correlations with the modified Localized Scleroderma Severity Index and the Physician Global Assessment of Activity using Spearman ρ coefficients), and viability (using qualitative interviews of investigators who used the MAM tool) were evaluated. Descriptive statistics were used for quantitative variables. Data on race and ethnicity categories were collected but not analyzed because skin color was more relevant for the purposes of this study. Results: Among 14 survey respondents during the development phase, 9 (64.3%) were pediatric dermatologists and 5 (35.7%) were dermatologists. After 2 rounds, a final tool was developed comprising 10 items that experts agreed were indicative of morphea activity (new lesion in the past 3 months, enlarging lesion in the past 3 months, linear lesion developing progressive atrophy in the past 3 months, erythema, violaceous rim or color, warmth to the touch, induration, white-yellow or waxy appearance, shiny white wrinkling, and body surface area). The validation phase was conducted with 14 patients (median age, 14.5 years [range, 8.0-18.0 years]; 8 [57.1%] female), 2 dermatologists, and 6 pediatric dermatologists. Interrater and intrarater agreement for MAM total scores was good, with intraclass correlation coefficients of 0.844 (95% CI, 0.681-0.942) for interrater agreement and 0.856 (95% CI, 0.791-0.901) for intrarater agreement. Correlations between the MAM and the modified Localized Scleroderma Severity Index (Spearman ρ = 0.747; P < .001) and the MAM and the Physician Global Assessment of Activity (Spearman ρ = 0.729; P < .001) were moderately strong. In qualitative interviews, evaluators agreed that the tool was easy to use, measured morphea disease activity at a single time point, and should be responsive to changes in morphea disease activity over multiple time points. Conclusions and Relevance: In this study, the MAM was found to be a reliable, valid, and viable tool to measure pediatric morphea activity. Further testing to assess validity in adults and responsiveness to change is needed.

Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.

BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this manuscript is to present the first consensus guidelines for the diagnosis and management of anemia in EB. RESULTS: Due to the lack of high-quality evidence, a consensus methodology was followed. An initial survey exploring patient preferences, concerns and symptoms related to anemia was sent to EB patients and their family members. A second survey was distributed to EB experts and focused on screening, diagnosis, monitoring and management of anemia in the different types of EB. Information from these surveys was collated and used by the panel to generate 26 consensus statements. Consensus statements were sent to healthcare providers that care for EB patients through EB-Clinet. Statements that received more than 70% approval (completely agree/agree) were adopted. CONCLUSIONS: The end result was a series of 6 recommendations which include 20 statements that will help guide management of anemia in EB patients. In patients with moderate to severe forms of EB, the minimum desirable level of Hb is 100 g/L. Treatment should be individualized. Dietary measures should be offered as part of management of anemia in all EB patients, oral iron supplementation should be used for mild anemia; while iron infusion is reserved for moderate to severe anemia, if Hb levels of > 80-100 g/L (8-10 g/dL) and symptomatic; and transfusion should be administered if Hb is < 80 g/L (8 g/dL) in adults and < 60 g/L (6 g/dL) in children.

Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report.

Congenital ichthyosis is a genodermatosis characterized by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant comorbidities and associated mortality, with most complications resulting from impaired barrier function. Early recognition can significantly alter the clinical course of this rare disease. Here we present a neonate with ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (ILVASC), a rare inherited disease, to highlight how an interdisciplinary approach led to prompt assessment, confirmation of a genetic diagnosis and management of potential complications.

Incidence and clinical factors associated with ulceration in infantile hemangiomas.

BACKGROUND: Ulceration is an important complication in infantile hemangiomas (IHs). Prior to the use of ß-blockers, the estimated incidence of this complication in a referral population was between 15% and 30%. The incidence and factors associated with ulceration have not been systematically studied since the emergence of ß-blocker therapy. OBJECTIVE: Examine the incidence and clinical predictors for ulceration in IHs. METHODS: Retrospective study at tertiary referral centers. RESULTS: Compared with a previous large pre-propranolol cohort study, ulceration occurred at a significantly lower incidence of 11.4%. Clinical factors associated with ulceration included partial segmental morphology, location in the diaper area, and size greater than 5 cm. Higher risk of ulceration in Black patients was observed, suggesting barriers to care including delayed diagnosis and referral to specialty care. LIMITATIONS: Retrospective design at tertiary referral centers. CONCLUSION: Compared with reports before the use of ß-blockers became widespread, the incidence of ulceration in IHs has decreased. However, it continues to be a relatively frequent complication of IH.

A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa.

BACKGROUND: Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical trial endpoints. METHODS: Patients with confirmed DEB diagnosis and ≥ 5 measurable wounds were included. The primary outcome was change from baseline in wound surface area (WSA) of 5 selected wounds by 3-dimensional imaging. Secondary endpoints were change from baseline in clinician global assessment (CGA) of WSA, wound characteristics, disease-related questionnaires and instruments (disease severity, quality of life [QoL], pain and disability, and itch), and tolerability of procedures. RESULTS: Of 30 enrolled patients, 29 completed the study (of whom, 28 had recessive DEB). Median age was 17.8 years (range, 3.8-58.7). All patients developed new or recurrent wounds during the 4-week study. Of the wounds selected at baseline, 45/150 (30.0%) healed by week 2; an additional 38 healed by week 4, while 8 of those healed at week 2 had recurred by week 4 for a total of 75/150 (50.0%) healed wounds at week 4. Mean values for WSA, CGA, and disease-related questionnaire and instrument scores remained steady during this 4-week observational study. Of the 10 disease-related questionnaires and instruments assessed, the scores for the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB) did not substantially overlap between moderate and severe disease. Between mild and moderate disease, only the EBDASI scores did not substantially overlap. CONCLUSIONS: These results stress the dynamic nature of wounds, even during a 4-week period of observation, and suggest that a combination of clinician-assessed outcomes and patient-/caregiver-reported outcomes is needed to provide a comprehensive assessment of DEB severity and impact. In addition, these results support the use of EBDASI and iscorEB to monitor disease severity as both produced scores that did not substantially overlap between disease severity strata. Clinical trial registration ClinicalTrials.gov, NCT02178969 . Registered 4 June 2014, https://clinicaltrials.gov/ct2/show/NCT02178969 .

Sociodemographic characteristics and emergency department visits and inpatient hospitalizations for atopic dermatitis in Ontario: a cross-sectional study.

BACKGROUND: Some jurisdictions experience sociodemographic disparities in atopic dermatitis care, including emergency department visits, but data from Canada are limited. Our objectives were to estimate the prevalence of atopic dermatitis in Ontario and to identify sociodemographic factors associated with emergency department visits and hospitalizations for this condition. METHODS: We conducted a cross-sectional analysis of patients in the Electronic Medical Record Primary Care database linked with administrative health data for Ontario, Canada. We estimated period prevalence and health service utilization for atopic dermatitis from 2005 to 2015. We used multivariable log-binomial regression to calculate adjusted risk ratios (RRs) and 95% confidence intervals (CIs) for associations between local dermatologist density and the proportion of emergency department visits and hospitalizations for atopic dermatitis. RESULTS: Among 249 984 patients, we identified 7812 with atopic dermatitis (period prevalence 2005-2015: 3.1%). Almost all physician visits for atopic dermatitis were to primary care physicians (> 99%). For every additional dermatologist per 100 000 population, the proportions of emergency department visits and hospitalizations for atopic dermatitis increased by 29% (RR 1.29, 95% CI 1.05-1.57). This relationship occurred in and around Toronto but was not consistent across the province. INTERPRETATION: In Ontario, higher dermatologist density was not associated with lower emergency department utilization and hospitalization for atopic dermatitis; the association varied in different locales with similar dermatologist densities. Strategies to improve access to care for atopic dermatitis should be tailored to local contexts.