Publications by authors named "Anette Bygum"

245 Publications

Assessment of Treatment Approaches and Outcomes in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: Insights From a Pan-European Multicenter Study.

JAMA Dermatol 2021 Aug 25. Epub 2021 Aug 25.

ToxiTEN group, European Reference Network for Rare Skin Diseases, Paris, France.

Importance: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe drug reactions associated with a high rate of mortality and morbidity. There is no consensus on the treatment strategy.

Objective: To explore treatment approaches across Europe and outcomes associated with the SJS/TEN disease course, as well as risk factors and culprit drugs.

Design, Setting, And Participants: A retrospective pan-European multicenter cohort study including 13 referral centers belonging to the ToxiTEN ERN-skin subgroup was conducted. A total of 212 adults with SJS/TEN were included between January 1, 2015, and December 31, 2019, and data were collected from a follow-up period of 6 weeks.

Main Outcomes And Measures: Risk factors for severe acute-phase complications (acute kidney failure, septicemia, and need for mechanical ventilation) and mortality 6 weeks following admission were evaluated using a multivariable-adjusted logistic regression model. One tool used in evaluation of severity was the Score of Toxic Epidermal Necrolysis (SCORTEN), which ranges from 0 to 7, with 7 the highest level of severity.

Results: Of 212 patients (134 of 211 [63.7%] women; mean [SD] age, 51.0 [19.3] years), the mean (SD) body surface area detachment was 27% (32.8%). In 176 (83.0%) patients, a culprit drug was identified. Antibiotics (21.2%), followed by anticonvulsants (18.9%), nonsteroidal anti-inflammatory drugs (11.8%), allopurinol (11.3%), and sulfonamides (10.4%), were the most common suspected agents. Treatment approaches ranged from best supportive care only (38.2%) to systemic glucocorticoids (35.4%), intravenous immunoglobulins (23.6%), cyclosporine (10.4%), and antitumor necrosis factor agents (3.3%). Most patients (63.7%) developed severe acute-phase complications. The 6-week mortality rate was 20.8%. Maximal body surface area detachment (≥30%) was found to be independently associated with severe acute-phase complications (fully adjusted odds ratio [OR], 2.49; 95% CI, 1.21-5.12; P = .01) and SCORTEN greater than or equal to 2 was significantly associated with mortality (fully adjusted OR, 10.30; 95% CI, 3.82-27.78; P < .001). Cyclosporine was associated with a higher frequency of greater than or equal to 20% increase in body surface area detachment in the acute phase (adjusted OR, 3.44; 95% CI, 1.12-10.52; P = .03) and an increased risk of infections (adjusted OR, 7.16; 95% CI, 1.52-33.74; P = .01). Systemic glucocorticoids and intravenous immunoglobulins were associated with a decreased risk of infections (adjusted OR, 0.40; 95% CI, 0.18-0.88; P = .02). No significant difference in 6-week mortality was found between treatment groups.

Conclusions And Relevance: This cohort study noted differences in treatment strategies for SJS/TEN in Europe; the findings suggest the need for prospective therapeutic studies to be conducted and registries to be developed.
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http://dx.doi.org/10.1001/jamadermatol.2021.3154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387938PMC
August 2021

Cercarial Dermatitis at Public Bathing Sites (Region Zealand, Denmark): A Case Series and Literature Review.

Case Rep Dermatol 2021 May-Aug;13(2):360-365. Epub 2021 Jul 16.

Department of Veterinary and Animal Sciences, Laboratory of Aquatic Pathobiology, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg, Denmark.

During recent years, we have observed an increasing occurrence of cercarial dermatitis in Denmark. We here describe 5 new cases from 2019 to 2020 associated with bathing in lakes Esrum sø, Furesø, and Ringen with emphasis on clinical symptoms and their relation to previous exposure to bird schistosome cercariae. In 2020, 2 patients from Furesø suffered from different severity of clinical symptoms after morning bathing in the same lake. We suggest that the differential symptoms may be explained by primary versus secondary exposure to the immunogenic pathogen.
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http://dx.doi.org/10.1159/000516981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339491PMC
July 2021

[Erytrodermi og erosioner hos en nyfødt].

Ugeskr Laeger 2021 06;183(25)

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June 2021

Long-term safety and effectiveness of berotralstat for hereditary angioedema: The open-label APeX-S study.

Clin Transl Allergy 2021 Jun;11(4):e12035

BioCryst Pharmaceuticals, Durham, North Carolina, USA.

Background: Berotralstat (BCX7353) is an oral, once-daily inhibitor of plasma kallikrein recently approved for prevention of angioedema attacks in adults and adolescents with hereditary angioedema (HAE). The objective of this report is to summarize results from an interim analysis of an ongoing long-term safety study of berotralstat in patients with HAE.

Methods: APeX-S is an ongoing, phase 2, open-label study conducted in 22 countries (ClinicalTrials.gov, NCT03472040). Eligible patients with a clinical diagnosis of HAE due to C1 inhibitor deficiency (HAE-C1-INH) were centrally allocated to receive berotralstat 150 or 110 mg once daily. The primary objective was to determine long-term safety and the secondary objective was to evaluate effectiveness.

Results: Enrolled patients (N = 227) received berotralstat 150 mg (n = 127) or 110 mg (n = 100) once daily. The median (range) duration of exposure was 342 (11-540) and 307 (14-429) days for the 150-mg and 110-mg groups, respectively. Treatment-emergent adverse events (TEAEs) occurred in 91% (n = 206) of patients. The most common TEAEs across treatment groups were upper respiratory tract infection (n = 91, 40%), abdominal pain (n = 57, 25%), headache (n = 40, 18%), and diarrhea (n = 31, 14%) and were mostly mild to moderate. Fifty percent (n = 113) of patients had at least one drug-related adverse event (AE; 150 mg, n = 57 [45%]; 110 mg, n = 56 [56%]), and discontinuations due to AEs occurred in 19 (8%) patients (150 mg, n = 13 [10%]; 110 mg, n = 6 [6%]). Three (1.3%) patients experienced a drug-related serious TEAE. Among patients who received berotralstat through 48 weeks (150 mg, n = 73; 110 mg, n = 30), median HAE attack rates were low in month 1 (150 mg, 1.0 attacks/month; 110 mg, 0.5 attacks/month) and remained low through 12 months (0 attacks/month in both dose groups). Mean HAE attack rates followed a similar trend, and no evidence for patient tolerance to berotralstat emerged. In both dose groups, angioedema quality of life scores showed clinically meaningful changes from baseline.

Conclusions: In this analysis, both berotralstat doses, 150  and 110 mg once daily, were generally well tolerated. Effectiveness results support the durability and robustness of berotralstat as prophylactic therapy in patients with HAE.

Trial Registration: The study is registered with ClinicalTrials.gov (NCT03472040).
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http://dx.doi.org/10.1002/clt2.12035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8221587PMC
June 2021

Cutaneous Expression of Familial Cancer Syndromes.

Acta Derm Venereol 2021 Jul 30;101(7):adv00505. Epub 2021 Jul 30.

Department of Emergency Medicine, Odense University Hospital, Odense, Denmark. E-mail:

Genodermatoses are inherited syndromes with cutaneous manifestations. Some genodermatoses are associated with malignancy of internal organs and tissues. Early detection of the typical signs of these syndromes is important, because those lesions are a sign of underlying predisposition to extracutaneous neoplasms. The dermatologist has an important role in the early detection of these signs and syndromes, as early detection may affect the clinical course of the disease. We report here the characteristic cutaneous findings that dermatologists should be aware of in order to identify a genodermatosis with a possible associated malignancy. An updated overview of the pathogenesis and clinical findings of these syndromes is provided. Furthermore, surveillance protocols and treatment recommendations are explored.
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http://dx.doi.org/10.2340/00015555-3852DOI Listing
July 2021

The impact of lymphedema on health-related quality of life up to 10 years after breast cancer treatment.

NPJ Breast Cancer 2021 Jun 1;7(1):70. Epub 2021 Jun 1.

Department of Plastic Surgery, Research Unit for Plastic Surgery, Odense University Hospital, Odense, Denmark.

The impact of breast cancer-related lymphedema (BCRL) on long-term quality of life is unknown. The aim of this study was to investigate the impact of BCRL on health-related quality of life (HRQoL) up to 10 years after breast cancer treatment. This regional population-based study enrolled patients treated for breast cancer with axillary lymph node dissection between January 1st 2007 and December 31th 2017. Follow up and assessments of the included patients were conducted between January 2019 and May 2020. The study outcome was HRQoL, evaluated with the Lymphedema Functioning, Disability and Health Questionnaire, the Disabilities of the Arm, Shoulder and Hand Questionnaire and the Short Form (36) Health Survey Questionnaire. Multivariate linear logistic regression models adjusted for confounders provided mean score differences (MDs) with 95% confidence intervals in each HRQoL scale and item. This study enrolled 244 patients with BCRL and 823 patients without BCRL. Patients with BCRL had significantly poorer HRQoL than patients without BCRL in 16 out of 18 HRQoL subscales, for example, in physical function (MDs 27, 95%CI: 24; 30), mental health (MDs 24, 95%CI: 21; 27) and social role functioning (MDs 20, 95%CI: 17; 23). Age, BMI, BCRL severity, hand and dominant arm affection had only minor impact on HRQoL (MDs < 5), suggesting a high degree of inter-individual variation in coping with lymphedema. This study showed that BCRL is associated with long-term impairments in HRQoL, especially affecting the physical and psychosocial domains. Surprisingly, BCRL diagnosis rather than clinical severity drove the largest impairments in HRQoL.
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http://dx.doi.org/10.1038/s41523-021-00276-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8169644PMC
June 2021

[Congenital hair shaft anomalies].

Ugeskr Laeger 2021 05;183(22)

This review covers congenital hair shaft anomalies, which are conditions affecting hair shaft morphology. Sometimes suspected with the naked eye, often in need of microscopic examination to properly diagnose, these conditions could lead to the discovery of a complex genetic syndrome. Further knowledge is needed in order to establish a diagnosis, approach treatment alternatives and shed light on prognoses, which benefits patients. Our aim is to provide an updated summary of pathogenesis, clinical findings, treatment options and prognosis as well as psychosocial impact.
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May 2021

Consensus on treatment goals in hereditary angioedema: A global Delphi initiative.

J Allergy Clin Immunol 2021 May 25. Epub 2021 May 25.

US HAE Association Angioedema Center, Department of Medicine, University of California, San Diego, La Jolla, Calif; San Diego Veterans Affairs Healthcare, San Diego, Calif.

Background: Hereditary angioedema (HAE) is a rare, life-threatening genetic disorder characterized by recurrent episodes of subcutaneous or submucosal angioedema. The ultimate goals of treatment for HAE remain ill-defined.

Objectives: The aim of this Delphi process was to define the goals of HAE treatment and to examine which factors should be considered when assessing disease control and normalization of the patient's life.

Methods: The Delphi panel comprised 23 participants who were selected based on involvement with scientific research on HAE or coauthorship of the most recent update and revision of the World Allergy Organization/European Academy of Allergy and Clinical Immunology guideline on HAE. The process comprised 3 rounds of voting. The final round aimed to aggregate the opinions of the expert panel and to achieve consensus.

Results: Two direct consensus questions were posed in round 2, based on the responses received in round 1, and the panel agreed that the goals of treatment are to achieve total control of the disease and to normalize the patient's life. For the third round of voting, 21 statements were considered, with the participants reaching consensus on 18. It is clear from the wide-ranging consensus statements that the burdens of disease and treatment should be considered when assessing disease control and normalization of patients' lives.

Conclusions: The ultimate goal for HAE treatment is to achieve no angioedema attacks. The availability of improved treatments and disease management over the last decade now makes complete control of HAE a realistic possibility for most patients.
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http://dx.doi.org/10.1016/j.jaci.2021.05.016DOI Listing
May 2021

Acceptance of Teledermoscopy by General Practitioners and Dermatologists in Denmark.

Dermatol Pract Concept 2021 Mar 12;11(2):e2021033. Epub 2021 Apr 12.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

Background: Teledermoscopy can be used to triage referrals of suspected skin cancers, thereby reducing waiting time and number of face-to-face consultations with a dermatologist. However, the success of the implementation of this technology in part relies on the acceptance of the providers.

Objectives: This study assessed the attitudes towards teledermoscopy of referring general practitioners and consultant dermatologists.

Methods: General practitioners from 48 practices and 3 dermatologists in the region of Southern Denmark, who had previous experience with teledermoscopy, were invited to answer questionnaires on their acceptance of the technology.

Results: General practitioners from 23 practices responded. All domains of the questionnaire received high scores, indicating a high degree of acceptance of teledermoscopy among respondents. All 3 dermatologists agreed that teledermoscopy was useful for triaging referrals, but they were less confident in their diagnoses and management plans proposed by teledermoscopy than in traditional face-to-face evaluations of patients. Two of the 3 dermatologists were satisfied with using teledermoscopy as a consult method.

Conclusions: This study reports high levels of provider acceptance of teledermoscopy. However, a low response rate among general practitioners may limit its generalizability.
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http://dx.doi.org/10.5826/dpc.1102a33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8060020PMC
March 2021

Patient-reported Outcome Measures for Angioedema: A Literature Review.

Acta Derm Venereol 2021 May 19;101(5):adv00456. Epub 2021 May 19.

Faculty of Health Science, University of Southern Denmark, DK-5000 Odense C, Denmark. E-mail:

Angioedema and hereditary angioedema are characterized by swelling of the subcutaneous and/or submucosal tissue, resulting in localized oedema. The rarity, but also the diverse clinical presentation, of these conditions can be challenging regarding diagnosis, treatment, and management. Patient-reported outcome measures (PROMs) are data received directly from the patient, providing the patient's perspective on various subjects regarding health and well-being. PROMs can be helpful tools to optimize treatment and long-term management of conditions. A major challenge regarding the consistent use of PROMs in clinical settings in Scandinavia is language availability; many of the validated PROMs for hereditary angioedema and angioedema lack translations into the Nordic languages. The litterature search yielded 9 different PROM tools for angioedema and hereditary angioedema. Five were found suitable for use in clinical practice in Europe. Even though several PROMs exist they are not used consistent. Accessible electronic PROMs and careful planning is required to implement PROMs optimally in routine care processes.
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http://dx.doi.org/10.2340/00015555-3807DOI Listing
May 2021

Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1.

BMJ Case Rep 2021 Mar 18;14(3). Epub 2021 Mar 18.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.
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http://dx.doi.org/10.1136/bcr-2020-238694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7978331PMC
March 2021

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.

Orphanet J Rare Dis 2021 01 18;16(1):34. Epub 2021 Jan 18.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

Background: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program is suggested. Our review is based on a PubMed search which retrieved case reports and cohort studies published before November 2019. The search yielded 97 original papers with a total of 672 HLRCC patients.

Results: CLMs were present in 474 patients (71.5%), developed at the mean age of 28 years. Five patients had cutaneous leiomyosarcomas. ULMs were present in 356 women (83%), while two had uterine leiomyosarcoma. ULMs were diagnosed at a mean age of 32 years, with the youngest diagnosed at age 17 years. The most common surgical treatment for ULMs was hysterectomy, performed at a mean age of 35 years, with the youngest patient being 19 years old. RCCs were present in 189 patients (34.9%), of which half had metastatic disease. The mean age of diagnosis was 36 years with the youngest patient diagnosed with RCC at the age of 11 years.

Conclusion: We suggest a surveillance program for HLRCC including a dermatological examination once every 2 years, annual magnetic resonance imaging starting at the age of 10 years to monitor for early RCCs, annual gynecological examinations from the age of 15 years and counseling regarding risk of hysterectomy and family planning at the age of 18 years. CLMs are often the earliest manifestation of HLRCC, which is why recognizing these lesions, performing a biopsy, and making a prompt referral to genetic counseling is important in order to diagnose HLRCC early.
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http://dx.doi.org/10.1186/s13023-020-01653-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814596PMC
January 2021

Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.

Genes (Basel) 2021 01 9;12(1). Epub 2021 Jan 9.

Department of Medical Sciences/Dermatology, Uppsala University, SE-751 85 Uppsala, Sweden.

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: , , , , , , , , , and . The main focus of this report is the mutational spectrum of the genes and , which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in and 27 pathogenic mutations in have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in and 25 novel mutations in . We investigated the spectrum of mutations in and in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations.
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http://dx.doi.org/10.3390/genes12010080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7826849PMC
January 2021

Identification of a pathogenic mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy.

BMJ Case Rep 2021 Jan 11;14(1). Epub 2021 Jan 11.

Dermatology and Allergy Center, University Hospital of Odense, Odense, Denmark.

Pityriasis rubra pilaris (PRP) is a rare dermatosis characterised by hyperkeratotic follicular papules, orange-red scaly plaques and palmoplantar keratoderma. The aetiology of the disease is in most cases unclear and treatment can be challenging. Familial cases of PRP may result from pathogenic variants in the caspase recruitment domain family member 14 (CARD14). We present a case of lifelong PRP in a 70-year-old woman, where genetic testing revealed a heterozygote missense variant c.412G>A, p.(Glu138Lys) in CARD14. Therapy with ustekinumab was initiated with remarkable effect, which improved the patient's quality of life significantly.
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http://dx.doi.org/10.1136/bcr-2020-235287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802709PMC
January 2021

Intake of dietary fibre, red and processed meat and risk of late-onset Chronic Inflammatory Diseases: A prospective Danish study on the "diet, cancer and health" cohort.

Int J Med Sci 2020 9;17(16):2487-2495. Epub 2020 Sep 9.

Focused Research Unit for Molecular Diagnostic and Clinical Research, IRS-Center Sonderjylland, Hospital of Southern Jutland, Aabenraa, Denmark.

Human and animal studies support the involvement of diet in the development of CID -chronic inflammatory diseases such as inflammatory bowel disease, psoriasis, rheumatoid arthritis, psoriatic arthritis, and multiple sclerosis. This cohort study aimed to investigate the association between intake of fibre, red and processed meat, and occurrence of late-onset CID (50+ years of age) in the DCH: Danish Diet, Cancer and Health cohort. We hypothesised that risk of late-onset CID would be lower among those with high intake of fibre and/or low intake of meat compared to individuals with low fibre and/or high meat intake. The DCH recruited 56,468 individuals, aged 50-64 years, between 1993 and 1997. At recruitment, diet intake was registered using food frequency questionnaires as well as lifestyle factors in 56,075 persons. Exposure variables were generated as sex-adjusted tertiles of fibre and meat (g/day). Development of CIDs was identified in national registries. Hazard ratios (HR) of late-onset CIDs (adjusted for age, sex, energy intake, alcohol, smoking, education, comorbidity, and civil status) were estimated for all three exposure variables. During follow-up of 1,123,754 years (median (Interquartile range) = 22.2 (20.1-23.1)), 1,758 (3.1%) participants developed at least one CID. The adjusted HRs for developing CID ( 1.04 [0.89-1.22] and 1.04 [0.91-1.18] (high fibre as reference), and 0.96 [0.86-1.09] and 0.94 [0.82-1.07] (low meat as reference)) or the individual diseases were not statistically significant. This large study did not support that a high intake of fibre and/or a low intake of meat had a high impact on the risk of late-onset CID.
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http://dx.doi.org/10.7150/ijms.49314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532485PMC
July 2021

[Flagellaterytem].

Ugeskr Laeger 2020 09;182(39)

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September 2020

Temperature and light effects on Trichobilharzia szidati cercariae with implications for a risk analysis.

Acta Vet Scand 2020 Sep 15;62(1):54. Epub 2020 Sep 15.

Laboratory of Aquatic Pathobiology, Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Stigbøjlen 7, 1870, Frederiksberg C, Denmark.

Background: Cercarial dermatitis (swimmer's itch) caused by bird schistosome cercariae, released from intermediate host snails, is a common disorder also at higher latitudes. Several cases were observed in the artificial Danish freshwater Ringen Lake frequently used by the public for recreational purposes. The lake may serve as a model system when establishing a risk analysis for this zoonotic disease. In order to explain high risk periods we determined infection levels of intermediate host snails from early spring to late summer (March, June and August) and elucidated the effect of temperature and light on parasite shedding, behavior and life span.

Results: Field studies revealed no shedding snails in March and June but in late summer the prevalence of Trichobilharzia szidati infection (in a sample of 226 pulmonate Lymnaea stagnalis snails) reached 10%. When investigated under laboratory conditions the cercarial shedding rate (number of cercariae shed per snail per day) was positively correlated to temperature raising from a mean of 3000 (SD 4000) at 7 °C to a mean of 44,000 (SD 30,000) at 27 °C). The cercarial life span was inversely correlated to temperature but the parasites remained active for up to 60 h at 20 °C indicating accumulation of cercariae in the lake during summer periods. Cercariae exhibited positive phototaxy suggesting a higher pathogen concentration in surface water of the lake during daytime when the public visits the lake.

Conclusion: The only causative agent of cercarial dermatitis in Ringen Lake detected was T. szidati. The infection risk associated with aquatic activities is low during spring and early summer (March-June). In late summer the risk of infection is high since the release, behavior and life span of the infective parasite larvae have optimal conditions.
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http://dx.doi.org/10.1186/s13028-020-00553-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493345PMC
September 2020

In hyperhidrosis quality of life is even worse than in acne, eczema, or psoriasis. A comparison of Skindex-16 and Dermatology Life Quality Index (DLQI).

Int J Dermatol 2020 Nov 2;59(11):e392-e393. Epub 2020 Sep 2.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1111/ijd.15164DOI Listing
November 2020

Clinical Features and Disease Course of Primary Angioedema Patients in a Tertiary Care Hospital.

J Asthma Allergy 2020 17;13:225-236. Epub 2020 Jul 17.

Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.

Purpose: To give a better understanding of primary AE, the clinical characteristics and the possible therapeutic approaches.

Background: Angioedema (AE) is a non-pitting, non-itching swelling of skin or mucosa. The symptom can become life-threatening if located in the airways. Primary (monosymptomatic) AE is a manifestation of several different diseases and the diagnosis is not always straight-forward. The aetiological and pathophysiological factors of primary AE are not completely clarified. There is a need for further investigation.

Patients And Methods: This was a retrospective cohort study of patients referred to an outpatient dermatology clinic in a tertiary care hospital for clinical assessment due to primary AE in the period from 1996 to 2014.

Results: A total of 315 patients were identified with primary AE. The most frequent subtype was idiopathic AE (42.5%) and the second most common was angiotensin-converting enzymeinhibitor (ACEi)-induced AE (31.1%). Three patients were diagnosed with hereditary AE and one patient was diagnosed with acquired C1-inhibitor deficiency. At least 107 (34.0%) patients had established histaminergic AE. More than 1/3 of the patients were treated in an emergency room or hospitalized due to AE. A 98.1% of patients had experienced AE in the head and neck area. Seven patients were in the need of acute airway intervention. Six of these had ACEi-induced AE. Female sex and smoking were found to be risk factors for developing AE.

Conclusion: The most frequent diagnoses were histaminergic-, non-histaminergic idiopathic AE and ACEi-induced AE, whereas complement C1-inhibitor deficiency was rare. Histaminergic AE made up a substantial group of patients with primary AE. Even though there are different pathophysiological causes of AE, many cases have overlapping clinical manifestations, which make diagnosis and treatment difficult.
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http://dx.doi.org/10.2147/JAA.S245161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373665PMC
July 2020

Anxiety and Depression in Primary Hyperhidrosis: An Observational Study of 95 Consecutive Swedish Outpatients.

Acta Derm Venereol 2020 Aug 18;100(15):adv00240. Epub 2020 Aug 18.

Empano, Peter Bangs Vej 7A, DK-2000 Frederiksberg, Denmark. E-mail:

is missing (Short communication).
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http://dx.doi.org/10.2340/00015555-3598DOI Listing
August 2020

The impact of adolescents' everyday life experiences on their primary hyperhidrosis treatment - a qualitative study.

J Dermatolog Treat 2020 Jul 22:1-7. Epub 2020 Jul 22.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

Introduction: Hyperhidrosis is a disease affecting around 5% of the western population. The qualitative field within hyperhidrosis among adolescents has been sparsely investigated. The aim of this study was to investigate the impact of adolescent hyperhidrosis patients' everyday life experiences on their hyperhidrosis treatment.

Methods: Qualitative, semi-structured interviews were carried out. In total, 10 adolescents, aged 12-18 years, participated in the study. Data were analyzed using a set of inseparable activities as described by Van Manen.

Results: Three main themes were identified to represent common shared experiences across participants. The first theme was related to the impact of hyperhidrosis on the physical and psychological dimensions of life as it negatively affected both physical abilities and one's self-concept. Having hyperhidrosis was experienced as living a life in secrecy, characterized by individual routines for concealment and isolation in order to protect social identity.

Conclusion: The large negative impact of hyperhidrosis on adolescents is a strong justification for treatment of the disease. The substantial emotional distress suggests that treatment may need to include psychological support.
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http://dx.doi.org/10.1080/09546634.2020.1789541DOI Listing
July 2020

[Pigmented purpuric dermatoses].

Ugeskr Laeger 2020 05;182(21)

In this review, we discuss pigmented purpuric dermatoses (PPD), which are a group of benign, chronic diseases characterised by purpuric eruption. PPD comprise mb. Schamberg, mb. Majocchi, Gougerot-Blum, lichen aureus, and Doucas and Kapetanakis eczematoid purpura. PPD can be seen in both genders and may affect all age groups. Purpura is often localised to the lower extremities, and it may be asymptomatic or pruritic. PPD is usually diagnosed upon recognition of classical clinical features, but the diagnosis can also be confirmed by a skin biopsy.
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May 2020

Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.

Clin Pharmacol Ther 2020 12 18;108(6):1195-1202. Epub 2020 Jul 18.

Division of Population Health and Genomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.

Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs). Few studies have investigated the association of common variants with this extreme reaction, but none have explored the combined influence of rare variants yet. Adjudicated cases of ACEI-induced angioedema (ACEI-AE) or ARB-induced angioedema (ARB-AE) and controls were recruited at five different centers. Sequencing of 1,066 samples (408 ACEI-AE, ARB-AE, and 658 controls) was performed using exome-enriched sequence data. A common variant of the F5 gene that causes an increase in blood clotting (rs6025, p.Arg506Gln, also called factor V Leiden), was significantly associated with both ACEI-AE and ARB-AE (odds ratio: 2.85, 95% confidence interval (CI), 1.89-4.25). A burden test analysis of five rare missense variants in F5 was also found to be associated with ACEI-AE or ARB-AE, P = 2.09 × 10 . A combined gene risk score of these variants, and the common variants rs6025 and rs6020, showed that individuals carrying at least one variant had 2.21 (95% CI, 1.49-3.27, P = 6.30 × 10 ) times the odds of having ACEI-AE or ARB-AE. The increased risk due to the common Leiden allele was confirmed in a genome-wide association study from the United States. A high risk of angioedema was also observed for the rs6020 variant that is the main coagulation defect-causing variant in black African and Asian populations. We found that deleterious missense variants in F5 are associated with an increased risk of ACEI-AE or ARB-AE.
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http://dx.doi.org/10.1002/cpt.1927DOI Listing
December 2020

Long-term safety and efficacy of subcutaneous C1-inhibitor in older patients with hereditary angioedema.

Ann Allergy Asthma Immunol 2020 09 20;125(3):334-340.e1. Epub 2020 May 20.

University of California, San Diego School of Medicine, La Jolla, California.

Background: Patients aged 65 years and older with hereditary angioedema (HAE) owing to C1-inhibitor (C1-INH) deficiency may have an altered response to treatment and are at higher risk for treatment-related adverse events (AEs) because of comorbidities and polypharmacy.

Objective: To investigate the safety and efficacy of subcutaneous C1 esterase inhibitor (C1-INH) in patients aged 65 years and older treated in an open-label extension of a phase 3 trial.

Methods: Eligible patients (≥4 attacks for more than 2 consecutive months) were randomized to receive twice-weekly subcutaneous C1-INH with a dosage of 40 IU/kg or 60 IU/kg for 52 to 140 weeks. Safety end points and efficacy outcomes were evaluated for patients aged 65 years and above and younger than 65 years.

Results: Of the 126 patients treated, 10 were 65 years and older (mean age [range], 68 [65-72 years]). A total of 8 of 10 patients had multiple comorbidities, and 6 of these 10 patients were taking more than 5 non-HAE-related drugs concomitantly. AEs occurring in more than 1 patient included injection site bruising (n = 2, related), injection site pain (n = 2, related), urinary tract infection (n = 2, unrelated), and diarrhea (n = 2, unrelated). No thromboembolic events or cases of anaphylaxis were reported. Two patients aged 65 years and older experienced unrelated serious AEs (dehydration and hypokalemia in 1 and pneumonia and an HAE attack leading to hospitalization in another). A total of 6 of 9 evaluable patients were responders, with a greater than or equal to 50% reduction in HAE attacks vs prestudy; 6 of 10 patients had less than 1 attack over 4 weeks and 3 were attack-free (median attack rate, 0.52 attacks per month).

Conclusion: Subcutaneous C1-INH was well-tolerated and effective in the management of HAE in patients aged 65 years and older with multiple comorbid conditions and polypharmacy.
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http://dx.doi.org/10.1016/j.anai.2020.05.015DOI Listing
September 2020

Introducing teledermoscopy of possible skin cancers in general practice in Southern Denmark.

Fam Pract 2020 09;37(4):513-518

Audit Project Odense, Research Unit of General Practice, University of Southern Denmark, Odense.

Background: The increasing incidence of skin cancers poses a burden to health care systems. General practitioners (GPs) play an important role in triaging these diseases and referring relevant patients to specialists. It is challenging to distinguish benign from malignant skin lesions, and GPs may benefit from diagnostic support from teledermoscopy (TD).

Objectives: To assess whether the introduction of TD in general practice was feasible and might reduce the number of unnecessary referrals to specialists and to assess the diagnostic accuracy and confidence of participating GPs.

Methods: Fifty general practices in Southern Denmark participated. Adult patients presenting to their GP with suspected skin cancer could be included. Images including dermoscopy were taken by the GP and sent for evaluation by specialized dermatologists at a university hospital. Patients were simultaneously referred for a face-to-face evaluation at the university hospital. Diagnoses proposed by the GPs and by TD were compared to the final diagnoses obtained by histopathology or, if not available, face-to-face evaluation.

Results: Five hundred and nineteen patients with 600 suspected skin cancers were included. The final diagnosis was benign in 72.3%. The photo quality was good or fair in 90.5%. GPs reported uncertainty about their diagnoses in 41.5% of cases. The GPs' positive predictive values for any malignancy and for malignant melanoma were 49.5% and 26.3%, respectively. On evaluation by TD, 31.5% of lesions did not need further in-person assessment.

Conclusion: Useful images of suspicious skin lesions were obtained from general practice, and GPs could benefit from TD to improve their diagnostic accuracy and confidence.
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http://dx.doi.org/10.1093/fampra/cmaa041DOI Listing
September 2020

Hereditary angioedema: the challenges of cross-border family investigation and treatment.

BMJ Case Rep 2020 Apr 14;13(4). Epub 2020 Apr 14.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Her younger sister and father were diagnosed later, following investigation of the family. Exploring the family history, deaths due to suffocation were described in previous generations and other family members based in Sweden, Germany, Turkey, Saudi Arabia, USA and Syria could also potentially be affected. This highlights the need for a cross-border effort to diagnose and treat this inherited disorder.
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http://dx.doi.org/10.1136/bcr-2019-231906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199096PMC
April 2020

[Prurigo pigmentosa].

Ugeskr Laeger 2020 03;182(11)

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March 2020

Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment.

Pharmacogenomics J 2020 12 21;20(6):770-783. Epub 2020 Feb 21.

Department of Medical Sciences, Clinical Pharmacology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Angioedema in the mouth or upper airways is a feared adverse reaction to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, which is used for hypertension, heart failure and diabetes complications. This candidate gene and genome-wide association study aimed to identify genetic variants predisposing to angioedema induced by these drugs. The discovery cohort consisted of 173 cases and 4890 controls recruited in Sweden. In the candidate gene analysis, ETV6, BDKRB2, MME, and PRKCQ were nominally associated with angioedema (p < 0.05), but did not pass Bonferroni correction for multiple testing (p < 2.89 × 10). In the genome-wide analysis, intronic variants in the calcium-activated potassium channel subunit alpha-1 (KCNMA1) gene on chromosome 10 were significantly associated with angioedema (p < 5 × 10). Whilst the top KCNMA1 hit was not significant in the replication cohort (413 cases and 599 ACEi-exposed controls from the US and Northern Europe), a meta-analysis of the replication and discovery cohorts (in total 586 cases and 1944 ACEi-exposed controls) revealed that each variant allele increased the odds of experiencing angioedema 1.62 times (95% confidence interval 1.05-2.50, p = 0.030). Associated KCNMA1 variants are not known to be functional, but are in linkage disequilibrium with variants in transcription factor binding sites active in relevant tissues. In summary, our data suggest that common variation in KCNMA1 is associated with risk of angioedema induced by ACEi or ARB treatment. Future whole exome or genome sequencing studies will show whether rare variants in KCNMA1 or other genes contribute to the risk of ACEi- and ARB-induced angioedema.
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http://dx.doi.org/10.1038/s41397-020-0165-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674154PMC
December 2020
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