| 1. |
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| 2. |
- Azhar, Aysha, et al.
(författare)
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A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect
- 2012
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Ingår i: EJD. European journal of dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 22:4, s. 464-466
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in the lysophosphatidic acid receptor 6 (LPAR6) gene cause localized autosomal recessive hypotrichosis. We report six consanguineous families from Pakistan with segregating hypotrichosis localized to the scalp. Genetic investigation using polymorphic microsatellite markers revealed homozygosity spanning the LAH3 locus on chromosome 13 in affected individuals of all six families. Sequence analysis of the LPAR6 gene showed a novel insertion resulting in a frameshift and a premature termination (p.I194FfsX11) in affected members of one family. In the remaining five families we identified a previously described missense mutation (p.G146R) in a homozygous state in affected members. The closest flanking polymorphic marker showed an identical allele size in the five families segregating with the p. G146R mutation, supporting a single origin of this variation. These findings extend the spectrum of known LPAR6 mutations and suggest a founder effect of the p. G146R mutation in the Pakistani population.
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| 3. |
- Bruze, Magnus
(författare)
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Thoughts on the interpretation of positive photopatch test reactions
- 2020
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Ingår i: European journal of dermatology : EJD. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 30:5, s. 541-544
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Positive photopatch test reactions are classified according to the International Contact Dermatitis Group. The various reaction patterns are interpreted to represent patterns such as contact allergy, photocontact allergy, photoaugmentation, and photoinhibition. OBJECTIVE: To investigate whether there are any weaknesses in the interpretation of reaction patterns. MATERIALS & METHODS: A dermatitis patient with photoallergic contact dermatitis due to ketoprofen was photopatch tested with serial dilutions of ketoprofen in ethanol. The reaction patterns for the various concentrations were used as a basis for discussion on weaknesses regarding the present interpretations of positive photopatch test reactions. RESULTS: The reaction patterns to the ketoprofen photopatch at various concentrations were interpreted as (i) contact allergy, (ii) contact allergy with photoaugmentation, (iii) contact allergy and photocontact allergy, and (iv) photocontact allergy. CONCLUSION: The present interpretation of positive photopatch test reactions is unreliable and therefore insufficient regarding appropriate advice for patients.
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| 4. |
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| 5. |
- Duvetorp, Albert, et al.
(författare)
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Narrowband-UVB treatment reduces levels of mediators of the Th17 pathway and chemotaxis in psoriatic skin without any concurring effect on mediator levels in serum
- 2022
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Ingår i: EJD. European journal of dermatology. - : JOHN LIBBEY EUROTEXT LTD. - 1167-1122 .- 1952-4013. ; 32:2, s. 250-259
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Tidskriftsartikel (refereegranskat)abstract
- Background: Narrowband-UVB (NB-UVB) is a common and effective psoriasis treatment. It exerts its effect locally and is therefore a better model for exploring dynamics of serum biomarkers reflecting psoriasis skin disease activity compared to other treatments with systemic uptake. Objectives: To perform an exploratory study to assess potential roles of multiple disease mediators as biomarkers for psoriasis disease activity, and increase understanding of NB-UVB treatment effects in psoriatic skin. Materials & Methods: Patients with plaque psoriasis were sampled (lesional, non-lesional skin, serum) before and after full NB-UVB treatment. Samples were assessed for 78 different mediators using Luminex assays. Correlation networks were analysed to explore interactions between lesional skin mediators before and after NB-UVB treatment. Results: None of the studied serum mediators were significantly affected by NB-UVB treatment after correction for multiple testing. Thirty mediators revealed a significant difference in lesional skin compared to non-lesional skin before treatment including interleukin 23 (IL-23) and C-C motif chemokine ligand 20 (CCL20), but also novel mediators such as angiopoietin-like 4 (ANGPTL4) and pentraxin 3 (PTX3). The levels of 25 mediators in skin decreased significantly, and network analysis revealed markedly reduced cluster formations and correlations after NB-UVB. Conclusion: NB-UVB treatment reduced the concentration of mediators of the Th17 inflammatory pathway and chemotaxis in psoriatic lesional skin, but also affected less studied and novel mediators. Although the treatment affected the levels of a majority of mediators in skin, no corresponding effect was observed in serum, thus challenging the possibility of a serum biomarker reflecting skin disease activity.
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| 6. |
- Enerbäck, Charlotta
(författare)
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Soluble biomarkers in psoriasis
- 2011
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Ingår i: EJD. European journal of dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 21:6, s. 844-850
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Forskningsöversikt (refereegranskat)abstract
- Psoriasis is a common, chronic, recurrent skin disorder, characterized by keratinocyte proliferation, T-cell activation and angiogenesis. The results of various clinical and experimental studies indicate that psoriasis is a complex, multifactorial disease with a genetic predisposition. During the past few years, many studies related to psoriasis biomarkers have been conducted. Biomarkers can relate to diagnosis, pathogenesis, prognosis, or therapeutic response. They could provide insight into disease susceptibility and natural history. The identification of biomarkers related to co-morbidities in psoriasis, such as arthritis, cardiovascular disease and the metabolic syndrome, has attracted special interest. This review presents current knowledge of soluble biomarkers in psoriasis, including cytokines, chemokines, pro-angiogenic mediators, growth factors, antimicrobial proteins, neuropeptides and markers of oxidative stress.
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| 7. |
- Forsea, Ana-Maria, et al.
(författare)
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Inequalities in the patterns of dermoscopy use and training across Europe : conclusions of the Eurodermoscopy pan-European survey
- 2020
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Ingår i: European journal of dermatology : EJD. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 30:5, s. 524-531
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Dermoscopy is a widely used technique, recommended in clinical practice guidelines worldwide for the early diagnosis of skin cancers. Intra-European disparities are reported for early detection and prognosis of skin cancers, however, no information exists about regional variation in patterns of dermoscopy use across Europe.OBJECTIVE: To evaluate the regional differences in patterns of dermoscopy use and training among European dermatologists.MATERIALS & METHODS: An online survey of European-registered dermatologists regarding dermoscopy training, practice and attitudes was established. Answers from Eastern (EE) versus Western European (WE) countries were compared and their correlation with their respective countries' gross domestic product/capita (GDPc) and total and government health expenditure/capita (THEc and GHEc) was analysed.RESULTS: We received 4,049 responses from 14 WE countries and 3,431 from 18 EE countries. A higher proportion of WE respondents reported dermoscopy use (98% vs. 77%, p<0.001) and training during residency (43% vs. 32%) or anytime (96.5% vs. 87.6%) (p<0.001) compared to EE respondents. The main obstacles in dermoscopy use were poor access to dermoscopy equipment in EE and a lack of confidence in one's skills in WE. GDPc, THEc and GHEc correlated with rate of dermoscopy use and dermoscopy training during residency (Spearman rho: 0.5-0.7, p<0.05), and inversely with availability of dermoscopy equipment.CONCLUSION: The rates and patterns of dermoscopy use vary significantly between Western and Eastern Europe, on a background of economic inequality. Regionally adapted interventions to increase access to dermoscopy equipment and training might enhance the use of this technique towards improving the early detection of skin cancers.
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| 8. |
- Ghatnekar, Ola, et al.
(författare)
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Costs and quality of life for psoriatic patients at different degrees of severity in southern Sweden - a cross-sectional study.
- 2012
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Ingår i: EJD. European Journal of Dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 22:2, s. 238-245
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Knowledge of the societal costs of psoriasis is limited. This study estimated the cost of care, psoriasis area and severity index (PASI), and quality of life in a defined patient population in Sweden. Methods: A prevalence-based prospective recruitment of patients visiting two Swedish dermatology clinics between September and December 2009 was performed, collecting resource utilization for health care contacts, treatment, travelling, and productivity loss during 1 month. Results: 164 patients were included. Mean total cost per patient-month was 994€. Main cost drivers were outpatient visits and light therapy (49%), biological drugs (20%) and productivity loss (22%). Total cost for topical treatment only (TT; 34%) was 369€, light therapy (LT; 24%) 1,274€, traditional systemic treatment (TST; 26%) 1,085€ and biological systemic treatment (BST; 16%) 1,709€ per patient-month. Main cost drivers were: outpatient visits (56%) in TT as well as for LT (78%), productivity loss (40%) in TST, and biological drugs (71%) among BST patients. There was no clear relationship between clinical (PASI) or subjective (DLQI) severity estimations and costs. Conclusions: The one-month cost-of-illness amounted to almost 1,000€/month, with great variations. Despite 1,190€ difference in drug cost for TST vs BST, total cost per month differed by 623€ because of offsets from improved productivity. A trend towards lower severity and reductions in outpatient and topical treatment costs was seen.
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| 9. |
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| 10. |
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| 11. |
- Hamada, Haneen, et al.
(författare)
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Assessment of dermal uptake of diphenylmethane-4,4'-diisocyanate using tape stripping and biological monitoring
- 2018
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Ingår i: EJD. European journal of dermatology. - : John Libbey Publishing. - 1167-1122 .- 1952-4013. ; 28:2, s. 143-148
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Tidskriftsartikel (refereegranskat)abstract
- Very little is known about the dermal uptake of isocyanates, and dermal exposure to isocyanates has been discussed as a factor involved in the induction of respiratory diseases. To investigate the dermal uptake of diphenylmethane-4,4'-diisocyanate (4,4'-MDI). Four volunteers were dermally exposed to 10, 25, 49 and 50 mg 4,4'-MDI, respectively, for eight hours. The exposed areas were tape stripped. Urine and blood were biologically monitored for 48 hours. Tape strips, plasma, and urine were analysed by liquid chromatography-mass spectrometry. In total, 35-70% of the applied dose of 4,4'-MDI was absorbed by the skin. Very low fractions of applied dose were found in the tape strips. The 4,4'-MDA concentration in plasma and urine was low, but peaked in urine at 10-14 hours and plasma at 8-32 hours after exposure. 4,4'-MDI is readily absorbed by human skin. Only small fractions of 4,4'-MDI remain as such in the superficial skin layers. The amounts found in blood and urine were only small fractions of the total applied doses which indicates that very small amounts of 4,4'-MDI penetrate the skin and reach the blood stream. The dermal uptake and distribution of 4,4'-MDI is much slower compared to that associated with airway uptake. Our data strongly indicate that formation of 4,4'-MDA from 4,4'-MDI upon reacting with water in the skin can only occur to a very limited extent.
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| 12. |
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| 13. |
- Li, DQ, et al.
(författare)
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MicroRNAs in skin wound healing
- 2017
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Ingår i: European journal of dermatology : EJD. - : John Libbey Eurotext. - 1952-4013 .- 1167-1122. ; 27:S1, s. 12-14
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Tidskriftsartikel (refereegranskat)
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| 14. |
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| 15. |
- Maroti, Marianne, et al.
(författare)
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A prospective population-based study, aiming to support decision-making in a follow-up programme for patients with cutaneous malignant melanoma, based on patterns of recurrence
- 2016
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Ingår i: EJD. European journal of dermatology. - : JOHN LIBBEY EUROTEXT LTD. - 1167-1122 .- 1952-4013. ; 26:6, s. 586-591
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Tidskriftsartikel (refereegranskat)abstract
- Background: The incidence of malignant melanoma (MM) is steadily rising, with only a minor increase in mortality. At present, there is no consensus regarding recommendations for follow-up programmes for MM, and health care programmes currently involve different schedules. With increasing opportunities to administer successful treatment for early disseminated disease, it may be of interest to engage MM patients and/or relatives in self-control. Objectives: The aim of the present study was to analyse both the time to, and the location of, the first metastatic lesion in order to provide help for the patient, relatives, and health professionals, and ensure better follow-up. Materials and methods: Data from the Swedish Melanoma Register, pathology registers, and the Cause of Death Register were used. Patients from the south-east region diagnosed with primary cutaneous MM between 1993 and 2007 were selected and data were correlated to characteristics of the primary tumour. Results: Metastases developed in 421 of the 2,910 patients with primary cutaneous MM in Stage I and II of the disease. Thirty-five percent of all recurrences were detected during the first year. Time to first metastasis to the skin and lymph nodes was almost identical. Conclusion: The vast majority of the recurrences were diagnosed at sites that were easily recognised by the patient and relatives; self-examination may therefore be a worthwhile approach. Our findings further indicate that the follow-up programme should focus on the first three years after diagnosis.
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| 16. |
- Nawaz, Sadia, et al.
(författare)
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Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12
- 2012
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Ingår i: EJD. European journal of dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 22:2, s. 178-181
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Tidskriftsartikel (refereegranskat)abstract
- A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We have identified a large consanguineous Pakistani family affected by NCIE. Autozygosity mapping showed that affected individuals are homozygous for the ABCA12 gene region. Subsequent mutation screening revealed a homozygous c.4676G>T transition in all five affected family members. The mutation results in a novel p.G1559V substitution within the first nucleotide binding domain of ABCA12. The combined results support that an ABCA12 missense mutation, despite its location in a functional domain, may be associated with a mild ichthyosis phenotype. Furthermore, our findings increase the mutational spectrum in ABCA12 associated with ARCI of diagnostic and prognostic importance.
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| 17. |
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| 18. |
- Rasool, Mahmood, et al.
(författare)
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Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
- 2010
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Ingår i: EJD. European journal of dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 20:4, s. 443-446
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Tidskriftsartikel (refereegranskat)abstract
- Hair-nail ectodermal dysplasia (HNED; OMIM 602032) constitutes a rare subgroup of ectodermal dysplasias characterised by onychodystrophy, hypotrichosis and brittle hair. We identified a large consanguineous Pakistani family with four siblings affected by a congenital autosomal recessive form of the disease. Based on previous genetic findings in HNED we performed linkage analysis in the family using chromosome 12 markers. A genetic linkage analysis revealed a lod score of 2.92 ( = 0.0) at locus D12S368, indicating the disease gene to be located on chromosome 12. Candidate genes on chromosome 12, including the KRTHB5 gene and four additional keratin II genes, were sequenced in affected family members. Sequence analysis of the coding regions of keratin KRTHB5 gene, previously associated with a distinct clinical form of hair-nail dysplasia, revealed normal coding regions. Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. The results suggest this family to have either a non-coding mutation in the KRTHB5 gene, or a mutation in a yet unknown gene within the linked region on chromosome 12.
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| 19. |
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| 20. |
- Siemund, Ingrid, et al.
(författare)
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Contact allergy in atopic individuals in relation to allergen-specific immunotherapy
- 2016
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Ingår i: European Journal of Dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 26:3, s. 271-280
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Tidskriftsartikel (refereegranskat)abstract
- Background: Type I sensitizations and atopic dermatitis (AD) often appear in the same patient. Beneficial effects of allergen-specific immunotherapy (ASIT) in patients with bothADand type I allergies have been reported. The predisposing role of AD to the development of type IV sensitization is discussed. Whether ASIT for type I allergy also influences type IV allergies is unknown. Objectives: To compare the number of contact allergies between patients with and without AD, before and after one year’s treatment with ASIT. Materials and Methods: A controlled, single-blind multicentre study of children/adults with allergic asthma and/or rhinoconjunctivitis, treated or untreated with ASIT, was performed. The history of AD was collected using questionnaires. The number of contact allergies was assessed by patch testing with a baseline series. Results: 205 individuals completed the study; 133 treated with ASIT (exposed) and 72 before starting ASIT (unexposed). For participants with AD, significantly more contact allergies were found in the groups of all children (p = 0.002), all exposed children (p<0.001), and all exposed study persons (p = 0.013). Independent of AD, significantly more contact allergies were noted in the groups of all unexposed adults (p = 0.004) and all unexposed study persons (p = 0.004). Conclusions: The higher number of contact allergies in patients with AD indicates that AD may be a risk factor for type IV sensitization in those with allergic asthma and/or rhinoconjunctivitis. The lower number of contact allergies in patients exposed to ASIT suggests an immunomodulatory effect on type IV sensitization.
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| 21. |
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| 22. |
- Sukakul, Thanisorn, et al.
(författare)
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Simultaneous positive patch test reactions to neomycin and low-molecular-weight heparins : possible cross-reaction?
- 2021
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Ingår i: European journal of dermatology : EJD. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 31:6, s. 741-743
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A patient received enoxaparin sodium subcutaneous injections for prophylaxis after surgery and developed inflammatory skin reactions on injection sites on Day 5 after the first administration. Patch test was performed with baseline series and low-molecular-weight heparins (LMWHs) at different concentrations and showed positive reactions to neomycin and LMWHs. Cross-reactivity between neomycin and LMWHs was suspected due to similar structure.OBJECTIVES: To establish the evidence of possible cross reaction between neomycin and LMWHs by patch testing.MATERIALS & METHODS: Patch testing of 12 individual controls with a history of neomycin contact allergy was performed.RESULTS: Positive patch test reactions to enoxaparin sodium, tinzaparin sodium, and neomycin sulphate were reported in the patients. None of the controls reacted to LMWHs.CONCLUSION: There was no proof of cross reaction between neomycin and LMWHs in this study, suggesting that the simultaneous reaction may be a coincidence. Since the number of individuals studied was low, allergy to LMWHs following injection in individuals with a history of neomycin allergy should be further investigated.
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| 23. |
- Trakatelli, Myrto, et al.
(författare)
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Clinical assessment of skin phototypes: watch your words!
- 2017
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Ingår i: European journal of dermatology : EJD. - : John Libbey Eurotext. - 1952-4013 .- 1167-1122. ; 27:6, s. 615-619
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Tidskriftsartikel (refereegranskat)abstract
- Fitzpatrick skin phototype classification is widely used to assess risk factors for skin cancers. This skin type evaluation is easy to use in clinical practice but is not always applied as initially described, nor practiced in a standardised way. This can have implications on the results of relevant dermato-epidemiological studies. To demonstrate, in a large multinational setting, that the phrasing of questions on sun sensitivity can have a strong impact on the perception and reporting of skin phototype, as well as the importance of a standardised procedure for phototype assessment. Using data collected from 48,258 screenees of the Euromelanoma campaign in six European countries from 2009 to 2011, we analysed the impact of change in the question phrasing on phototype classification in each country. Changing the wording of a question to assess the phototype of a person also significantly influenced the classification of phototypes in different countries (p<0.001 for each country). The difference essentially corresponded to a shift towards a less sun-sensitive skin type when a shorter question that did not include skin colour description was used. The only exception was Portugal where phototype was not patient-assessed and classification shifted towards a more sun-sensitive phototype. Results were statistically significant and highly consistent, irrespective of gender. The phrasing of questions on skin type is important and substantially influences reporting. A standardized procedure to classify phototypes should be used in order to obtain comparable data between studies.
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| 24. |
- Wei, Tianling, et al.
(författare)
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Interleukin-8 is regulated by miR-203 at the posttranscriptional level in primary human keratinocytes.
- 2013
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Ingår i: EJD. European journal of dermatology. - 1167-1122 .- 1952-4013.
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Tidskriftsartikel (refereegranskat)abstract
- Background: MicroRNAs are important posttranscriptional regulators of gene expression. MiR-203 is a miRNA preferentially expressed in the skin, and an important regulator of keratinocyte differentiation. MiR-203 has been implicated in skin diseases, in particular in psoriasis in which it is overexpressed, and in basal cell carcinoma where it acts as a tumor suppressor miRNA. Objectives: To identify novel targets for miR-203 that may be relevant in skin physiology and diseases. Materials & Methods: Bioinformatics was used to identify putative miR-203 targets among genes expressed in keratinocytes. Interleukin-8 (IL-8) gene expression and concentration in keratinocyte medium was measured by quantitative real-time PCR and ELISA, respectively. For miRNA overexpression, resting or TNF-α-treated primary human keratinocytes were transfected with synthetic precursor of miR-203, or scramble miRNA precursors using Lipofectamine 2000. 3'UTR luciferase reporter experiments were performed to prove the direct miRNA:mRNA interaction. Site-specific mutagenesis was used to mutate the predicted miR-203 binding sites in the 3'UTR of IL-8 gene. Results: Bioinformatic analysis indentified two putative miR-203 binding sites in the 3'UTR of IL-8. MiR-203 suppressed IL-8 mRNA and protein expression in primary human keratinocytes both under resting conditions and after TNF-α treatment. Overexpression of miR-203 suppressed the luciferase activity of a reporter gene fused with the IL-8 3'UTR. The suppressive effect was abolished when the predicted binding sites of miR-203 on IL-8 3'UTR were mutated. Conclusion: We identify IL-8 as a novel target of miR-203 for posttranscriptional suppression. These findings may have relevance in diseases in which miR-203 and IL-8 expression are deregulated.
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