Background Anaphylaxis in children and adolescents is a potentially life-threatening condition. Its heterogeneous clinical presentation and sudden occurrence in virtually any setting without warning ...have impeded a comprehensive description. Objective We sought to characterize severe allergic reactions in terms of elicitors, symptoms, emergency treatment, and long-term management in European children and adolescents. Methods The European Anaphylaxis Registry recorded details of anaphylaxis after referral for in-depth diagnosis and counseling to 1 of 90 tertiary allergy centers in 10 European countries, aiming to oversample the most severe reactions. Data were retrieved from medical records by using a multilanguage online form. Results Between July 2007 and March 2015, anaphylaxis was identified in 1970 patients younger than 18 years. Most incidents occurred in private homes (46%) and outdoors (19%). One third of the patients had experienced anaphylaxis previously. Food items were the most frequent trigger (66%), followed by insect venom (19%). Cow's milk and hen's egg were prevalent elicitors in the first 2 years, hazelnut and cashew in preschool-aged children, and peanut at all ages. There was a continuous shift from food- to insect venom– and drug-induced anaphylaxis up to age 10 years, and there were few changes thereafter. Vomiting and cough were prevalent symptoms in the first decade of life, and subjective symptoms (nausea, throat tightness, and dizziness) were prevalent later in life. Thirty percent of cases were lay treated, of which 10% were treated with an epinephrine autoinjector. The fraction of intramuscular epinephrine in professional emergency treatment increased from 12% in 2011 to 25% in 2014. Twenty-six (1.3%) patients were either admitted to the intensive care unit or had grade IV/fatal reactions. Conclusions The European Anaphylaxis Registry confirmed food as the major elicitor of anaphylaxis in children, specifically hen's egg, cow's milk, and nuts. Reactions to insect venom were seen more in young adulthood. Intensive care unit admissions and grade IV/fatal reactions were rare. The registry will serve as a systematic foundation for a continuous description of this multiform condition.
Rare diseases affect approximately 30 million people in the European Union and present a major health issue. Over 1000 rare skin diseases are known, many of which are of genetic origin and manifest ...in childhood. One of these diseases is epidermolysis bullosa (EB), a genodermatosis presenting with skin fragility and blistering. With an estimate of up to 2000 affected individuals in Germany, many of these children, but only two specialist centres, the question arose where and how health care for this rare disease is provided. This question was addressed by an online survey of all paediatric and dermatological departments in Germany.
The response rate was 40.5% (203/501), and 39 departments confirmed treating EB (7.8% of the units addressed). Health care for individuals with EB was provided both by dermatological and paediatric departments (19.8 and 4.2% respectively). The geographic distribution of EB health care was uneven. The two EB centres in Hanover and Freiburg treated 70 and 113 patients, two other departments saw 11 to 20 patients, while the majority saw less than 10 patients annually. There existed large variations between 1. the consultation setting, time frame and frequency, 2. the recommended examinations and check-ups and 3. the diagnostics used to establish the diagnosis. Over 50% of participating physicians were dissatisfied with health care outside of hospitals and more than 20% with their patients' supply with bandages or medications.
The survey results show that health care for individuals with EB in Germany is provided multidisciplinarily. Approaches to diagnostics and follow-up recommendations are heterogeneous and national guidelines are lacking. Functioning and innovative political structures are needed to improve networking and strengthening specialised centres to meet the special needs of individuals with EB and other rare diseases.
Bullous pemphigoid (BP) in infants is a rare but increasingly reported autoimmune blistering skin disease. Autoantibody reactivity is usually poorly characterized. Current guidelines do not address ...specific aspects of the infantile form of BP. The objectives of this study are to define clinical and diagnostic characteristics of infantile BP and develop a treatment algorithm.
Detailed characterization of a current case series of five infants with BP from our departments. Comprehensive analysis of all reported cases (1-12 months) with respect to clinical and laboratory characteristics, treatment and outcome.
In total 81 cases were identified (including our own). The mean age was 4.5 months. Moderately severe and severe disease was seen in 84% of cases. Involvement of hands and feet was present in all cases. Immunofluorescence microscopy was comparable with BP in adults. Where analyzed, the NC16A domain of bullous pemphigoid 180 kDa antigen/collagen XVII (BP180) was identified as the major target antigen. BP180 NC16A ELISA values in our cohort were significantly higher than in a control cohort of 28 newly diagnosed adult patients. 50% of patients were treated with systemic corticosteroids, 20% with a combination of systemic corticosteroids and dapsone or sulfapyridine and 10% with topical corticosteroids alone. 14% of patients needed a combination of multiple immunosuppressants. All but one patient reached remission. Relapses were rare.
Presentation of infantile BP is often severe with blistering of hands and feet present in all cases. Pathogenesis and diagnostic criteria are comparable to adult BP, yet BP180 NC16A ELISA levels seem to be significantly higher in infants. The overall disease outcome is favorable. Based on the results of this study we propose a treatment algorithm for infantile BP.
Background Specific IgE measurement predicts the outcome of oral food challenges with considerable uncertainty when evaluating food allergy. Objective Our aim was to assess whether accounting for the ...ratio of component- or allergen-specific to total IgE can improve this prediction. Methods This multicenter study collected blood samples from children with suspected peanut or hazelnut allergy referred to allergy specialist clinics for food challenges. Specific IgE to peanuts, hazelnuts, and their components (Ara h 1, Ara h 2, Ara h 3, Ara h 8, Cor a 1, Cor a 8, Cor a 9, and Cor a 14) and total IgE levels were determined by using the ImmunoCAP-FEIA. Specific to total IgE ratios were compared with raw IgE levels in terms of discrimination and prediction. Results Eighty-eight (43%) of 207 children with suspected peanut allergy and 44 (31%) of 142 children with suspected hazelnut allergy had symptoms during food challenge. Discrimination was similar for raw and ratio measures: areas under the curve of 0.93 for Ara h 2–specific IgE versus 0.92 for the Ara h 2–specific/total IgE ratio and 0.89 for Cor a 14–specific IgE versus 0.87 for the Cor a 14–specific/total IgE ratio. The probability for a positive peanut challenge with 0.35 kU/L Ara h 2–specific IgE was 16% when the total IgE level was greater than 500 kU/L compared with 51%/48% for low/medium total IgE levels (<100/100-500 kU/L). A positive hazelnut challenge with 0.35 kU/L Cor a 14–specific IgE was estimated in 7% when total IgE levels were high compared with 34%/32% with low/medium total IgE levels. Conclusions Raw Ara h 2– and Cor a 14–specific IgE levels were the best single predictors for pediatric peanut and hazelnut allergies, suggesting the omission of challenges at very high levels. Calculating ratio measures did not improve prediction in this population. However, estimation of individual probabilities for challenge outcomes could be supported by total IgE levels because high levels might indicate lower probabilities at a given component-specific IgE level.
Zusammenfassung
Neonatale Erythrodermien bilden eine heterogene Gruppe vorwiegend hereditärer, schwerer Hauterkrankungen mit fakultativer oder obligater Beteiligung weiterer Organsysteme. Sie stellen ...einen kinderdermatologischen Notfall dar und bedürfen regelhaft einer stationären Therapie. Zur Diagnosestellung sind spezielle Untersuchungen, einschließlich Dermatohistopathologie, immunologischer Laborbestimmungen und Molekulargenetik, indiziert. Der vorliegende Beitrag fasst klinisch relevante Aspekte der Differenzialdiagnosen, Diagnostik und Therapie neonataler Erythrodermien anhand von 3 Fallbeispielen zusammen.
Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors of the innate immune system causing unprovoked or exaggerated systemic inflammation. Diagnosis of monogenic AID ...requires an accurate description of the patients' phenotype, and the identification of highly penetrant genetic variants in single genes is pivotal. We performed whole exome sequencing (WES) of 125 pediatric patients with suspected monogenic AID in a routine genetic diagnostic setting. Datasets were analyzed in a step-wise approach to identify the most feasible diagnostic strategy. First, we analyzed a virtual gene panel including 13 genes associated with known AID and, if no genetic diagnosis was established, we then analyzed a virtual panel including 542 genes published by the International Union of Immunological Societies associated including all known inborn error of immunity (IEI). Subsequently, WES data was analyzed without pre-filtering for known AID/IEI genes. Analyzing 13 genes yielded a definite diagnosis in 16.0% (
= 20). The diagnostic yield was increased by analyzing 542 genes to 20.8% (
= 26). Importantly, expanding the analysis to WES data did not increase the diagnostic yield in our cohort, neither in single WES analysis, nor in trio-WES analysis. The study highlights that the cost- and time-saving analysis of virtual gene panels is sufficient to rapidly confirm the differential diagnosis in pediatric patients with AID. WES data or trio-WES data analysis as a first-tier diagnostic analysis in patients with suspected monogenic AID is of limited benefit.
Risk Factors and Characteristics of Biphasic Anaphylaxis Kraft, Magdalena; Scherer Hofmeier, Kathrin; Ruëff, Franziska ...
The journal of allergy and clinical immunology in practice (Cambridge, MA),
2020 Nov - Dec, Letnik:
8, Številka:
10
Journal Article
Recenzirano
Anaphylaxis is an immediate hypersensitivity reaction. However, a biphasic course with the second onset of symptoms can occur hours after the initial phase. Little is known about the causes of ...biphasic anaphylaxis making the identification of patients at risk difficult.
To identify factors predisposing for biphasic anaphylaxis for the better understanding of these reactions.
Data from the Anaphylaxis Registry (from 11 countries) including 8736 patients with monophasic and 435 biphasic anaphylaxis were analyzed.
The rate of biphasic reactions in this large cohort was 4.7%. The identified risk factors were reaction severity (grade III/IV vs grade II: odds ratio OR = 1.34; 95% confidence interval CI: 1.1-1.62); multiorgan involvement; skin, gastrointestinal, severe respiratory, and cardiac symptoms; anaphylaxis caused by peanut/tree nut (OR = 1.78; 95% CI: 1.38-2.23) or an unknown elicitor (OR = 1.96; 95% CI: 1.41-2.72); exercise as a cofactor (OR = 1.44; 95% CI: 1.17-1.78); chronic urticaria as a comorbidity (OR = 2.12; 95% CI: 1.19-3.78); a prolonged interval between the contact with the elicitor and start of primary symptoms (OR for >30 vs <30 min: 1.38; 95% CI: 1.08-1.76); and antihistamine treatment (OR = 1.52; 95% CI: 1.14-2.02).
A biphasic course of anaphylaxis occurs more frequently in severely affected patients with multiorgan involvement. However, we identified multiple additional predictors, suggesting that the pathogenesis of biphasic reactions is more complex than being a rebound of a severe primary reaction.
Objective Little is known about specific cutaneous findings in children and adolescents with overweight and obesity. This study assessed the association of skin signs with pivotal auxological and ...endocrinological parameters and their influence on the quality of life (QoL) of young people with obesity. Study design All patients initially recruited for a tertiary hospital's weight control program were offered participation in this interdisciplinary, single-center, cross-sectional study. All participants underwent a detailed dermatological examination, anthropometric measurements and laboratory examinations. QoL was assessed with validated questionnaires. Results A total of 103 children and adolescents (age 11.6 ±2.5 years, 41% female, 25% prepubertal, BMI SDS 2.6 ± 0.5, homeostatic model assessment (HOMA) score 3.3 ± 4.2; mean ± s.d.) were recruited in a 12-month study period. Skin affections were linearly associated with increasing BMI and higher age. The most common skin findings were (%) striae distensae (71.0), keratosis pilaris (64.7), acanthosis nigricans (45.0), acne vulgaris (39.2), acrochordons (25.5) and plantar hyperkeratosis (17.6). The HOMA score was associated with acanthosis nigricans (P = 0.047), keratosis pilaris (P = 0.019) and acne vulgaris (P < 0.001). The general mean QoL(QoL) score, as assessed by the WHO-5, was 70 out of 100. A total of 38.9% of participants reported impaired dermatological QoL. Conclusions This study shows the high prevalence of skin lesions in children and adolescents with obesity. The association between skin lesions and the HOMA score indicates that skin manifestations are a marker of insulin resistance. To prevent secondary diseases and improve QoL, thorough skin examinations and interdisciplinary cooperation are necessary.
We report two patients with DNA repair disorders (Artemis deficiency, Ataxia telangiectasia) with destructive skin granulomas, presumably triggered by live-attenuated rubella vaccinations. Both ...patients showed reduced naïve T cells. Rapid resolution of skin lesions was observed following hematopoietic stem cell transplantation. However, the patient with AT died due to complications of severe hepatic veno-occlusive disease 6 month after HSCT. Dried blood spots obtained after birth were available from this patient and showed absent T-cell receptor excision circles (TRECs). Therefore, newborn screening may help to prevent patients with moderate T-cell deficiency from receiving live-attenuated rubella vaccine potentially causing granulomas.
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