Life | Special Issue : Mechanism, Diagnostic and Therapeutic Novelties in Dermatology

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17 pages, 1362 KiB

Open AccessArticle

Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus—A Possible Epigenetic Effect in the Autoimmune Response

by Maiara Sulzbach Denardin, Valéria Bumiller-Bini Hoch, Amanda Salviano-Silva, Sara Cristina Lobo-Alves, Gabriel Adelman Cipolla, Danielle Malheiros, Danillo G. Augusto, Michael Wittig, Andre Franke, Claudia Pföhler, Margitta Worm, Nina van Beek, Matthias Goebeler, Miklós Sárdy, Saleh Ibrahim, Hauke Busch, Enno Schmidt, Jennifer Elisabeth Hundt, Maria Luiza Petzl-Erler and Angelica Beate Winter Boldt

Life 2024, 14(1), 60; https://doi.org/10.3390/life14010060 - 29 Dec 2023

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Abstract

Pemphigus foliaceus (PF) is an autoimmune skin blistering disease characterized by antidesmoglein-1 IgG production, with an endemic form (EPF) in Brazil. Genetic and epigenetic factors have been associated with EPF, but its etiology is still not fully understood. To evaluate the genetic association [...] Read more.

Pemphigus foliaceus (PF) is an autoimmune skin blistering disease characterized by antidesmoglein-1 IgG production, with an endemic form (EPF) in Brazil. Genetic and epigenetic factors have been associated with EPF, but its etiology is still not fully understood. To evaluate the genetic association of histone (de)acetylation-related genes with EPF susceptibility, we evaluated 785 polymorphisms from 144 genes, for 227 EPF patients and 194 controls. Carriers of HDAC4_rs4852054*A were more susceptible (OR = 1.79, p = 0.0038), whereas those with GSE1_rs13339618*A (OR = 0.57, p = 0.0011) and homozygotes for PHF21A_rs4756055*A (OR = 0.39, p = 0.0006) were less susceptible to EPF. These variants were not associated with sporadic PF (SPF) in German samples of 75 SPF patients and 150 controls, possibly reflecting differences in SPF and EPF pathophysiology. We further evaluated the expression of histone (de)acetylation-related genes in CD4⁺ T lymphocytes, using RNAseq. In these cells, we found a higher expression of KAT2B, PHF20, and ZEB2 and lower expression of KAT14 and JAD1 in patients with active EPF without treatment compared to controls from endemic regions. The encoded proteins cause epigenetic modifications related to immune cell differentiation and cell death, possibly affecting the immune response in patients with PF. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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11 pages, 4707 KiB

Open AccessArticle

Frontal Fibrosing Alopecia: An Observational Single-Center Study of 306 Cases

by Marcos Carmona-Rodríguez, Fernando Moro-Bolado, Guillermo Romero-Aguilera, Ricardo Ruiz-Villaverde and Víctor Carriel

Life 2023, 13(6), 1344; https://doi.org/10.3390/life13061344 - 8 Jun 2023

Cited by 1 | Viewed by 2980

Abstract

(1) Background: Frontal fibrosing alopecia (FFA) is a scarring alopecia that predominantly affects postmenopausal women; (2) Methods: A retrospective, observational, single-center study was conducted in the Hospital General Universitario in Ciudad Real, Spain, including all patients diagnosed with FFA between 2010 and 2021; [...] Read more.

(1) Background: Frontal fibrosing alopecia (FFA) is a scarring alopecia that predominantly affects postmenopausal women; (2) Methods: A retrospective, observational, single-center study was conducted in the Hospital General Universitario in Ciudad Real, Spain, including all patients diagnosed with FFA between 2010 and 2021; (3) Results: A total of 306 patients (296 women and 10 men) were included in our study. The mean age of onset was 59.5 years. The severity of this disease was evenly distributed between mild (147 patients) and severe (149 patients) forms. There was a positive, statistically significant, medium correlation between the severity of the disease and its time of progression. Moreover, hypothyroidism was present in 70 patients (22.9%) and classic signs of concomitant lichen planopilaris were observed in just 30 patients (9.8%), while other forms of lichen planus were uncommon. The estimated prevalence in our population is 0.15% and the incidence is 15.47 new cases per 100,000 inhabitants; (4) Conclusions: The time of progression was positively correlated with the severity of FFA. However, the presence of clinical signs, such as inflammatory trichoscopic signs, was not associated with the progression of this condition. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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12 pages, 4315 KiB

Open AccessArticle

Degree of Actinic Elastosis Is a Surrogate of Exposure to Chronic Ultraviolet Radiation and Correlates More Strongly with Cutaneous Squamous Cell Carcinoma than Basal Cell Carcinoma

by Konstantin Drexler, Hans Drexler, Sigrid Karrer, Michael Landthaler, Sebastian Haferkamp, Florian Zeman, Mark Berneburg and Dennis Niebel

Life 2023, 13(3), 811; https://doi.org/10.3390/life13030811 - 17 Mar 2023

Cited by 3 | Viewed by 1678

Abstract

(1) Background: Keratinocyte cancer (KC) is associated with exposure to ultraviolet (UV) radiation. However, data are controversial as to whether chronic UV exposure or high intermittent UV exposure are key drivers of carcinogenesis in cutaneous squamous cell carcinoma (cSCC) and basal cell carcinoma [...] Read more.

(1) Background: Keratinocyte cancer (KC) is associated with exposure to ultraviolet (UV) radiation. However, data are controversial as to whether chronic UV exposure or high intermittent UV exposure are key drivers of carcinogenesis in cutaneous squamous cell carcinoma (cSCC) and basal cell carcinoma (BCC). Prolonged sun exposure of the skin causes photo-aging, which is associated with actinic elastosis, a condition characterized by the degeneration of elastin in the upper dermis, which is assessable via conventional histology. In this study, we aimed to compare the degree of actinic elastosis in different types of KC with regard to various patient characteristics. (2) Methods: We defined a semiquantitative score for the degree of actinic elastosis ranging from 0 = none to 3 = total loss of elastic fibers (basophilic degeneration). The extent was measured histometrically by two independent dermatohistopathologists in the immediate vicinity of 353 KC. The scores were merged and matched with tumor types (cSCC and BCC with subtypes), and clinical variables such as body site, sex and age. (3) Results: As expected, the degree of actinic elastosis correlated with age. However, it was significantly higher in cSCC compared to BCC irrespective of age, sex, body site and tumor subtypes. (4): Conclusions: Lifetime sun exposure may be estimated via routine histology using this scoring technique for actinic elastosis as a surrogate marker. cSCCs are more strongly associated with chronic UV exposure than BCCs, even in sun-exposed localizations such as the face. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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12 pages, 2335 KiB

Open AccessArticle

Efficacy and Satisfaction of Low Doses UVA1 Phototherapy: A Spanish Experience from a Single Centre

by Juan Pablo Velasco-Amador, Laura Linares-Gonzalez and Francisco Javier De la Torre-Gomar

Life 2023, 13(3), 669; https://doi.org/10.3390/life13030669 - 28 Feb 2023

Cited by 6 | Viewed by 2280

Abstract

Background: UVA1 phototherapy is a treatment used for multiple dermatological conditions. The optimal therapeutic regimens and dosing of UVA1 are a matter of debate. The dosages used vary widely between published studies and there are no evidence-based protocols that provide data on dosage, [...] Read more.

Background: UVA1 phototherapy is a treatment used for multiple dermatological conditions. The optimal therapeutic regimens and dosing of UVA1 are a matter of debate. The dosages used vary widely between published studies and there are no evidence-based protocols that provide data on dosage, duration, or the role of maintenance therapy. The purpose of this study is to evaluate the experience in our medical center regarding treatment with UVA1, as well as the degree of patient satisfaction with the treatment according to their pathology. Methods: We present a retrospective evaluation of outcomes, treatment tolerability, and satisfaction in adult patients using a low dose of UVA1 phototherapy, administered in our dermatologic service between 2019 and 2022. Results: A total of 78 patients were treated with UVA1, of whom 46 patients (59%) were over 18 years old, completed treatment, and gave their consent. The overall objective clinical response rate was 91.30% (42/46), achieving a complete response in 17 (36.96%) patients, partial response in 25 (54.34%), and no response in 4 (8.70%). The complete response rates recorded were high in morphea, scleredema, or chronic hand eczema. In terms of the level of satisfaction objectively measured by TSQM-9 version 1.4, highlighting high scores obtained in mastocytosis, systemic sclerosis, morphea, scleredema, chronic hand eczema, or prurigo nodularis (over 65 points). Conclusions: We present a review of treatment with UVA1 phototherapy at low doses with good response in a wide variety of dermatological pathologies. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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11 pages, 1566 KiB

Open AccessArticle

The Association between the Level of Advanced Glycation End Products and Objective Skin Quality Parameters

by Dinko Martinovic, Daria Tokic, Mislav Usljebrka, Slaven Lupi-Ferandin, Livia Cigic, Lucija Vanjaka Rogosic, Sasa Ercegovic, Mirko Kontic, Marko Kumrić, Doris Rusic, Marino Vilovic, Mateo Leskur and Josko Bozic

Life 2023, 13(2), 256; https://doi.org/10.3390/life13020256 - 17 Jan 2023

Cited by 3 | Viewed by 2634

Abstract

Advanced glycation end products (AGEs) represent an endogenously produced or exogenously derived group of compounds derived from nonenzymatic glycation. Recent experimental studies are suggesting that AGEs could play an important role in the skin’s quality and its aging process. Hence, the aim of [...] Read more.

Advanced glycation end products (AGEs) represent an endogenously produced or exogenously derived group of compounds derived from nonenzymatic glycation. Recent experimental studies are suggesting that AGEs could play an important role in the skin’s quality and its aging process. Hence, the aim of this study was to clinically evaluate the AGEs and skin quality parameters across different age groups in the general population. The study included 237 participants. Melanin, erythema, hydration, friction and transepidermal water loss (TEWL) were evaluated using noninvasive probes, while AGEs were evaluated using a skin autofluorescence reader. There was a significant positive correlation between AGEs and the amount of melanin (p < 0.001), erythema (p < 0.001) and TEWL (p < 0.001), while there was a significant negative correlation between AGEs and hydration (p < 0.001) and friction (p < 0.001). After dividing the sample into three groups depending on their age, in all three groups, there was a significant positive correlation between AGEs and the melanin count (p < 0.001) and TEWL (p < 0.001), while there was a significant negative correlation between AGEs and skin hydration (p < 0.001). Multiple linear regression analysis showed that the level of AGEs as a dependent variable retained a significant association with age (p < 0.001), melanin (p < 0.001), erythema (p = 0.005) and TEWL (p < 0.001) as positive predictors. Moreover, AGEs retained a significant association with skin hydration (p < 0.001) and friction (p = 0.017) as negative predictors. These outcomes imply that AGEs could be linked with the complex physiology of the skin and its aging process. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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9 pages, 262 KiB

Open AccessArticle

Optimising the Therapeutic Interval for Biologics in Patients with Psoriasis

by Jose Manuel Dodero-Anillo, Inmaculada Concepcion Lozano-Cuadra, Esmeralda Rios-Sanchez, Maria Jose Pedrosa-Martinez, Jose Carlos Ruiz-Carrascosa, Manuel Galan-Gutierrez and Jose Carlos Armario-Hita

Life 2022, 12(12), 2075; https://doi.org/10.3390/life12122075 - 10 Dec 2022

Cited by 4 | Viewed by 1105

Abstract

In our clinical experience, more than half of patients do not present a complete response to biologic drugs, or drug loses its efficacy over time. Plasma determinations of drug and anti-drug antibodies levels are an objective tool for optimisation in these patients; however, [...] Read more.

In our clinical experience, more than half of patients do not present a complete response to biologic drugs, or drug loses its efficacy over time. Plasma determinations of drug and anti-drug antibodies levels are an objective tool for optimisation in these patients; however, established therapeutic ranges are not suitable, so the objective of this study was to study these patients and optimise their healthcare. We have made a retrospective, observational study, using data of plasma levels of drugs and anti-drugs antibodies of infliximab, adalimumab or Etanercept, we summarise all data and make a study of sensitivity, specificity, positive and negative predictive value on current therapeutic ranges. We have found a statistically significant association between subtherapeutic levels and therapeutic failure in psoriasis treated with infliximab and adalimumab. New ranges were found with higher sensitivity than the established ones, we propose 2–10 µg/mL therapeutic range for infliximab, 3–11 µg/mL for adalimumab, and 1–7 µg/mL for etanercept. In conclusion, levels of drug and anti-drug antibodies are a decisive tool for predicting therapeutic response. The current therapeutic ranges may have minimum values that are excessively high, owing to which lowering them significantly increases the sensitivity of the test in all cases, and negative predictive value in the case of etanercept. Further prospective studies are needed to prove the usefulness of these new ranges. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

13 pages, 268 KiB

Open AccessArticle

Contact Allergy in the Elderly: A Study of 600 Patients

by Dominik Németh and Györgyi Pónyai

Life 2022, 12(8), 1228; https://doi.org/10.3390/life12081228 - 13 Aug 2022

Cited by 1 | Viewed by 2035

Abstract

The proportion of elderly in the general population is increasing. Ageing of the skin and immune system can modify the features of contact hypersensitivity (CH). The number of epidemiological studies according to the age-related features of CH is very limited. We aimed to [...] Read more.

The proportion of elderly in the general population is increasing. Ageing of the skin and immune system can modify the features of contact hypersensitivity (CH). The number of epidemiological studies according to the age-related features of CH is very limited. We aimed to analyse the clinical characteristics of CH in an elderly patient population. A total of 600 patients (patient age > 60 years old) were patch tested with the European Environmental Baseline Series (EEBS) and 440 of them with the Complementary Fragrance Series (CFS) at the same time according to the actual international methodological standards in the Allergy Outpatient Unit of Department of Dermatology, Venereology and Dermato-Oncology of Semmelweis University between 2015–2019. Out of 600 tested patients, 54.8% had at least one allergen positivity. Female predominance was observed (78.7%). The most common diagnosis was contact dermatitis (63.7%), followed by psoriasis (6.2%). Most of the cases (58.0%) were found in the age group of 60–69. The five most common contact allergens were benzoic acid, methylisothiazolinone (MI), wood tar, nickel, and balsam of Peru. Allergic skin symptoms are present in all ages and also in the elderly. According to our data, the most common contact allergens are preservatives, followed by balsam of Peru among men and nickel among women. In case of contact dermatitis, stasis dermatitis, rosacea, and atopic dermatitis are worth patch testing to verify CH even in those above 60 years old. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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15 pages, 2648 KiB

Open AccessSystematic Review

Laser Therapy for Vulvar Lichen Sclerosus, a Systematic Review

by Ana Gil-Villalba, Angela Ayen-Rodriguez, Maria Jose Naranjo-Diaz and Ricardo Ruiz-Villaverde

Life 2023, 13(11), 2146; https://doi.org/10.3390/life13112146 - 31 Oct 2023

Cited by 1 | Viewed by 2946

Abstract

Lichen sclerosus (LS) is a chronic inflammatory disease that mainly affects the anogenital area, with a higher incidence in post-menopausal women. In the long term, it can lead to loss of vulvar architecture or progress to squamous cell carcinoma. The evidence-based treatment involves [...] Read more.

Lichen sclerosus (LS) is a chronic inflammatory disease that mainly affects the anogenital area, with a higher incidence in post-menopausal women. In the long term, it can lead to loss of vulvar architecture or progress to squamous cell carcinoma. The evidence-based treatment involves high-potency topical corticosteroids in long regimens. However, second-line treatments are not well-established, including laser therapy. This current study aims to assess the level of evidence supporting this therapy. We conducted a search for primary-level studies published before April 2023 through MEDLINE/PubMed, Embase, Web of Science, Scopus, and CENTRAL, with no restrictions on the publication language or date. The methodological quality and risk of bias of the included studies were evaluated using the updated Cochrane Collaboration’s tool for assessing risk of bias (RoB-2). Six studies (177 patients) met our eligibility criteria. Laser therapy was compared to topical corticosteroid treatment in five out of six studies. No significant histological differences were found, except for an increase in collagen production in the laser group. A greater reduction in itching, pain, and dyspareunia at 1 and 3 months of treatment in the laser group, as well as in the Skindex-29 at 6 months, was reported. Patient satisfaction was significantly higher among those who received laser therapy. Tolerability was excellent. No significant differences were observed in any of the previous aspects in the study compared to the placebo. In conclusion, there is not enough evidence to recommend laser therapy as a standalone treatment. Full article

(This article belongs to the Special Issue Mechanism, Diagnostic and Therapeutic Novelties in Dermatology)

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