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Perhaps one of the most important questions posed by the neurobiology of aging concerns the pathogenic mechanisms in Parkinson's disease (PD). Recently, it was suggested that exposure to pesticides could be the main cause of PD. Another study reported that the environmental endotoxin, lipopolysaccaride produced by Salmonella minnesota, might be a risk factor for PD. An alternative explanation is the genetic component, which has been suggested to be an important risk factor. Epidemiological studies have identified a positive family history of Parkinson as one of the most important risk factors for the disease. However, these studies neither examined nor reviewed the medical records of the family members. The twin study stated that the major factors in the etiology of PD are non-genetic. Meanwhile, epidemiological studies from China have shown that the prevalence of PD is much lower than in the Caucasian population, explained by the low frequency of cytochrome P-450 CYP2D6 debrisoquine hydroxylase gene polymorphism. The etiology of idiopathic PD is still a question for scientists, and calls for further research, especially with the growing proportion of elderly and the rising incidence of PD worldwide. Future research for PD risk factors should consider that multiple interactions occur in PD, resulting in a complex trait, which includes genetic, acquired, and environmental components. [ABSTRACT FROM AUTHOR]

In this original research, we present the results in terms of effectiveness and safety of bimekizumab for hidradenitis suppurativa in real clinical practice. Results indicated significant improvement in all activity scores and patient-reported outcomes at week 16, including a notable decrease in mean IHS4 from 27.1 to 15.6 (p < 0.001), HS-PGA from 5.1 to 3.2 (p < 0.001), VAS pain from 8.3 to 4.7 (p < 0.001) and DLQI from 21.6 to 12.6 (p < 0.001). Bimekizumab, administered every 2 or 4 weeks, was well-tolerated with no discontinuations and no new safety concerns identified. These findings corroborate the drug's effectiveness and favourable safety profile observed in phase 3 clinical trials, supporting its use in real-world clinical practice for treating HS., (© 2024 Australasian College of Dermatologists.)

Introduction: The use of biological therapy is becoming increasingly common in patients with hidradenitis suppurativa (HS). Levels of serum TNF-alfa and IL17 support the role of an immune system dysregulation in the pathogenesis of HS. Brodalumab targets the receptor A of IL-17, thus having a promising role in the treatment of HS., Material and Methods: A multicenter retrospective observational open-label study was conducted in two tertiary hospitals. Adults with moderate to severe HS under treatment with brodalumab 210 mg at week 0, 1, 2 and then every 2 weeks were included and assessed at weeks 0 and 16 which was the median follow-up time. Demographic and disease-related variables as well as response parameters (HiSCR and IHS4) and safety data were recorded and analysed., Results: A total of 16 patients (75% males) were included in our study. 50% of patients presented an inflammatory phenotype and mean BMI was 28.37. HiSCR was achieved in 50% of patients and mean IHS4 decreased from 24.13 to 16.81 (p = 0.002). No differences were found between those who achieved HiSCR and those who did not. Grade 2 adverse events were reported in three patients with no fatal outcomes and treatment discontinuation was advised in four patients., Conclusions: Brodalumab seems to be effective and safe in patients with moderate to severe HS, even in those that did not respond to adalimumab, which, at the moment, is the only widely approved biologic for this indication. Thus, it stands as an interesting option for the treatment of HS., (© 2024 Australasian College of Dermatologists.)

Background: Visits for skin conditions are very common in pediatric primary care, and many of the patients seen in outpatient dermatology clinics are children or adolescents. Little, however, has been published about the true prevalence of these visits or about their characteristics., Material and Methods: Observational cross-sectional study of diagnoses made in outpatient dermatology clinics during 2 data-collection periods in the anonymous DIADERM National Random Survey of dermatologists across Spain. All entries with an International Classification of Diseases, Tenth Revision code related to dermatology in the 2 periods (84 diagnoses) were collected for patients younger than 18 years and classified into 14 categories to facilitate analysis and comparison., Results: In total, the search found 20 097 diagnoses made in patients younger than 18 years (12% of all coded diagnoses in the DIADERM database). Viral infections, acne, and atopic dermatitis were the most common, accounting for 43.9% of all diagnoses. No significant differences were observed in the proportions of diagnoses in the respective caseloads of specialist vs. general dermatology clinics or public vs. private clinics. Seasonal differences in diagnoses (January vs. May) were also nonsignificant., Conclusions: Pediatric care accounts for a significant proportion of the dermatologist's caseload in Spain. Our findings are useful for identifying opportunities for improving communication and training in pediatric primary care and for designing training focused on the optimal treatment of acne and pigmented lesions (with instruction on basic dermoscopy use) in these settings., (Copyright © 2023 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background and Objective: The burden of nonvenereal infections in Spanish dermatology practice has not yet been evaluated. The aim of this study was to analyze the overall weight of these infections in outpatient dermatology caseloads., Material and Methods: Observational cross-sectional study of diagnoses made by a random selection of dermatologists from the Spanish Association of Dermatology and Venereology (AEDV) working in outpatient dermatology clinics. The data were obtained through the anonymous DIADERM survey. Diagnoses of infectious diseases were selected using codes from the International Classification of Diseases, Tenth Revision. After excluding sexually transmitted infections, the diagnoses were classified into 22 groups., Results: Spanish dermatologists diagnosed an estimated 16190 (95% CI, 9338-23042) nonvenereal infections on average per week, a figure that accounted for 9.33% of the dermatology caseload. The most common diagnostic groups were nonanogenital viral warts (7475 diagnoses, 46.17% of nonvenereal infections), dermatophytosis (3336, 20.61%), and other viral infections (1592, 9.84%), which included Molluscum contagiosum infections. Nonvenereal infections were more common than noninfectious dermatologic conditions in private clinics (P<.0020) and adults (P<.00001). Patients with these infections were also more likely to be discharged than those with other conditions in both public (P<.0004) and private (P<.0002) practices., Conclusions: Nonvenereal infections are frequent in dermatology. They are the third most common reason for outpatient visits, behind actinic keratosis and nonmelanoma skin cancer. By enhancing the participation of dermatologists in the management of skin infections and encouraging interactions with other specialists, we will be able to carve out a niche in an area we have scarcely ventured into to date., (Copyright © 2023 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background and Objective: Predominantly sexually transmitted infections (STIs) and infestations and other anogenital dermatoses are covered in the training of specialists in dermatology and venereology in Spain. This study aimed to analyze the proportion of the dermatology caseload these diseases account for within the public and private dermatological activity of the Spanish health system., Material and Methods: Observational cross-sectional study of time periods describing the diagnoses made in outpatient dermatology clinics, obtained through the anonymous DIADERM survey of a representative random sample of dermatologists. Based on diagnostic codes of the International Classification of Diseases, Tenth Revision, 36 related diagnoses were selected, and classified into 12 groups., Results: Only 3.16% of diagnoses corresponded to STIs and other anogenital dermatoses. The most common diagnostic group was anogenital human papillomavirus infection, followed by molluscum contagiosum, and inflammatory anogenital dermatoses. Lesions with these diagnoses were usually the main reasons for first visits in the National Health Service. In private practice, the diagnoses usually came after referrals from other physicians., Conclusions: STIs and other anogenital dermatoses account for a very small proportion of the dermatology caseload in Spain, although the inclusion of molluscum contagiosum diagnoses overestimates these conditions. The fact that no STI centers or monographic STI consultations were included in the random sample of dermatology partly explains the under-representation of these areas of the specialty. A determined effort to support and promote monographic STI centres and clinics should be made., (Copyright © 2021 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin. Thrombocytopenia was present in all patients. The mutations in KDSR were associated with reduced ceramide levels in skin and impaired platelet function. KDSR enzymatic activity was variably reduced in all patients, resulting in defective acylceramide synthesis. Mutations in KDSR have recently been reported in inherited recessive forms of progressive symmetric erythrokeratoderma, but our study shows that biallelic mutations in KDSR are implicated in an extended spectrum of disorders of keratinization in which thrombocytopenia is also part of the phenotype. Mutations in KDSR cause defective ceramide biosynthesis, underscoring the importance of ceramide and sphingosine synthesis pathways in skin and platelet biology., (Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.)

Competing Interests: There are no conflicts of interest.

Basosquamous carcinoma (BSC), as described in 1910, is a distinctive variety of skin cancer and its etiology and pathological characteristics have generated much controversy over the years. Currently, BSC is considered a basal cell carcinoma (BCC) subtype with aggressive behavior and greater tendency for recurrence and metastases. We present a clinical case recently reported in our unit.

Objectives: The objective of our follow-up study is to evaluate liver function tests (LFTs) and lipid profiles in patients with Gilbert's syndrome treated with isotretinoin because of severe acne., Setting: Dermatology outpatient clinics of three regional hospitals of Jaén (Spain)., Participants: Over 4 years, we included all patients diagnosed with severe acne. Only 37 patients were identified, of which 11 had Gilbert's syndrome., Interventions: All patients were treated with isotretinoin and followed-up in our outpatient clinics after 10 and 20 weeks. Patients were subjected to an interview questionnaire which included data on age, gender, complete blood count, coagulation profile, fasting blood glucose, LFTs and lipid profiles. Data and results of patients with severe acne and Gilbert's syndrome were compared with those of 26 patients with only severe acne (control group)., Primary Outcome: Blood analyses were repeated in the follow-up visits., Results: In patients with Gilbert's syndrome, bilirubin levels showed substantial decrease over the 20-week follow-up, with more decrease after 10 weeks. None of the control group patients had significant increase in total bilirubin levels after 10 and 20 weeks of follow-up. Liver enzymes were maintained within normal levels in both groups. Both study groups did not show significant pathological increase in lipid profile levels. LDL levels were increased in the two study groups, but this increase was less substantial in patients with Gilbert's syndrome., Conclusions: Our preliminary results suggest that oral isotretinoin could be an effective, safe treatment for patients with Gilbert's syndrome, and may lower bilirubin levels in the first 10 weeks of treatment. Limitations of the study include the small numbers of participants and the fact that it is restricted to one region of Spain.