Concordance between referral and final diagnoses of pediatric patients with vascular malformations.

BACKGROUND: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification. METHODS: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis. RESULTS: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively). CONCLUSIONS: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

INTRODUCCIÓN: Las malformaciones vasculares (MVa) son un grupo heterogéneo de trastornos resultantes de la dismorfogénesis de los vasos sanguíneos. A pesar de que la correcta clasificación es relevante para brindar un adecuado tratamiento de acuerdo con la medicina basada en la evidencia, la terminología diagnóstica podría resultar confusa o utilizarse de manera inapropiada. MÉTODOS: En este estudio retrospectivo se midieron el acuerdo y la concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos finales confirmados de 435 pacientes pediátricos con MVa recién remitidos a la Clínica de anomalías vasculares (CAV) multidisciplinaria, mediante el análisis de concordancia kappa de Fleiss (κ). RESULTADOS: Se encontró una buena concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos confirmados de MVa (κ 0.306, p < 0.001). Las malformaciones linfáticas (LM) y las MVa asociadas con otras anomalías presentaron concordancias diagnósticas moderadas (κ 0.593, p < 0.001 y κ 0.469, p < 0.001, respectivamente). CONCLUSIONES: Se requiere de estrategias de educación médica continua para mejorar el conocimiento de los médicos y la precisión diagnóstica de los pacientes con MVa.

Nail involvement in patients with epidermolysis bullosa: A systematic review.

Background: Nail changes in patients with congenital epidermolysis bullosa (EB) are caused by abnormalities of the nail matrix and bed secondary to pathogenic alterations of the dermoepidermal junction. Even though ungual alterations are extremely frequent in these patients, there are scarce studies about their frequency and/or association with subtypes or clinical course of EB. Objectives: To systematically review nail abnormalities in patients with EB reported in the literature. Methods: We searched all published articles in electronic databases until June 2020 reporting patients with EB with detailed descriptions of malformed/diseased nails using specific terms and inclusion/exclusion criteria. Clinical data were extracted by two independent authors. Descriptive statistics were used. Results: We included 36 articles reporting 74 individual patients with a mean age of 28.23 years: 29 (39.2%) had dominant dystrophic EB, 27 (36.4%) had junctional EB, 8 (10.8%) had EB simplex, 6 (8.1%) had Kindler syndrome and 4 (5.4%) had recessive dystrophic EB. The most common abnormalities were dystrophic nails (48.6%), anonychia (43.2%) and pachyonychia (40.5%). Anonychia was considered the most severe abnormality and was reported more frequently in patients with junctional (62.9%) and recessive dystrophic EB (50%). Multiple organ involvement was present in 52.7% of patients. Patients with severe junctional epidermolysis bullosa and recessive dominant epidermolysis bullosa presented anonychia since birth. Conclusions: In this summary of nail abnormalities in patients with EB, anonychia was more frequent in patients with severe EB subtypes and multiple organ involvement. Further prospective studies are required to understand the associations between nail abnormalities in specific EB subtypes and/or patient outcomes.

Concordance between referral and final diagnoses of pediatric patients with vascular malformations / Concordancia entre el diagnostico de referencia y final de pacientes pediátricos con malformaciones vasculares

Abstract Background: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification. Methods: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis. Results: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively). Conclusions: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

Resumen Introducción: Las malformaciones vasculares (MVa) son un grupo heterogéneo de trastornos resultantes de la dismorfogénesis de los vasos sanguíneos. A pesar de que la correcta clasificación es relevante para brindar un adecuado tratamiento de acuerdo con la medicina basada en la evidencia, la terminología diagnóstica podría resultar confusa o utilizarse de manera inapropiada. Métodos: En este estudio retrospectivo se midieron el acuerdo y la concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos finales confirmados de 435 pacientes pediátricos con MVa recién remitidos a la Clínica de anomalías vasculares (CAV) multidisciplinaria, mediante el análisis de concordancia kappa de Fleiss (κ). Resultados: Se encontró una buena concordancia entre los diagnósticos de referencia (o derivación) y los diagnósticos confirmados de MVa (κ 0.306, p < 0.001). Las malformaciones linfáticas (LM) y las MVa asociadas con otras anomalías presentaron concordancias diagnósticas moderadas (κ 0.593, p < 0.001 y κ 0.469, p < 0.001, respectivamente). Conclusiones: Se requiere de estrategias de educación médica continua para mejorar el conocimiento de los médicos y la precisión diagnóstica de los pacientes con MVa.

Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients.

BACKGROUND/OBJECTIVES: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g., age, disease severity, and percent of body surface area (BSA) involved). METHODS: Patients with EB ages 8-16 and their parents/guardians who were English or Spanish speaking completed a one-time online survey. Parent measures included: demographics questionnaire, Pain Catastrophizing Scale-Parent (PCS), and Parent Functional Disability Inventory (FDI). Child measures included: PCS child and child FDI. Higher scores on both scales indicate higher levels of catastrophizing and functional disability. RESULTS: Of 31 children, the mean age was 11.47 years and the majority (70.97%) had dystrophic EB. Mean scores were: 35.84 = PCS parent; 34.58 = PCS child; 30.87 = parent FDI; 29.77 = child FDI. Total scores for PCS parent, parent FDI, and child FDI increased significantly with disease severity and percentage of involved BSA (p < .01 for all). Total scores for PCS child increased significantly with percent of EB skin involvement (p = .04) but not disease severity. Older children reported more functional disability than their parents and younger children (p = .02). CONCLUSIONS: Our results demonstrate significant positive correlations between negative thoughts related to pain and the experience of functional difficulties in patients with EB and their caregivers. Psychological, psychiatric, and/or behavioral interventions to help managing chronic pain may be effective for patients with EB.