Alitretinoin in the treatment of cutaneous T-cell lymphoma

Introduction In this survey, we analyzed data from patients suffering from the most common cutaneous T-cell lymphomas (CTCLs) subtypes mycosis fungoides (MF) and Sezary syndrome (SS), treated with the retinoid alitretinoin during a 7-year period at our outpatient department between 2015 and 2020. Materials and Methods We analyzed patient medical records including TNMB stage, side effects under therapy with alitretinoin, time to next treatment (TTNT), and previous photo documentation. Results A total of 35 patients with MF (n = 28) and SS (n = 7) were included in the study, of whom 69% were male and 31% were female. The mean age of onset was 56 +/- 15 years in MF and 65.4 +/- 10.8 years in SS with 51.4% having early stage (IA-IIA) and 48.6% having advanced stage (IIB-IVA) CTCL. Of these patients 37.2% responded to alitretinoin, 28.6% had a stable course, and 34.3% experienced progression. Alitretinoin was administered as a monotherapy (25.7%) or combined with five concomitant therapies (74.2%), most frequently with ECP (31.4%) and PUVA (11.4%). 63% did not report any side effects, most often hypertriglyceridemia (20%) was described. Conclusion Considering that nearly two thirds of the CTCL patients treated with alitretinoin showed a response or stable disease, together with a low number of side effects and low cost compared to bexarotene, alitretinoin may be a potential alternative in the treatment of less advanced CTCLs. This survey represents the largest number of recorded therapies with the retinoid alitretinoin in CTCLs in a European patient collective

3D printing and silicone models of primary skin lesions for dermatological education as remote learning tool

Background and objectives: The corona pandemic affects many aspects of life – with challenges in medical treatment undoubtedly of paramount importance. However, continuing medical education needs to be consistently provided. During a semester with lockdown-phases and limited student-to-patient-contact availability, we supplied silicone models of primary skin lesions to every student and asked them to evaluate this teaching tool. Methods: In two anonymous online surveys, we asked students enrolled in dermatology (n = 222) at the Medical Facility of the Ludwig Maximilian University of Munich in the winter semester 2020/2021 – subsequent to online teaching – about their understanding and self-assessment of primary skin lesions before and after receiving silicone models for practice. The models were produced by layering different types of silicone into negative 3D printed molds made from polylactide to attain different degrees of hardness and colors. Results: Data from 211 (95.0 %) and 213 (95.9 %) of the 222 students were analyzed before and after receiving the silicone models, respectively. In all questions the students stated a highly significant improvement in their skills (P < 0.001). The majority of students evaluated the silicone models positively and reported a better understanding and learning of primary skin lesions. Conclusions: This study demonstrates the benefit of haptic experience in dermatology teaching not only in the time of COVID-19, but also thereafter

Line‐field confocal optical coherence tomography for the in‐vivo real‐time diagnosis of different stages of keratinocyte skin cancer: a preliminary study

Background: The treatment of keratinocyte cancers (KC) strictly depends on their differentiation and invasiveness. Non-invasive diagnostic techniques can support the diagnosis in real time, avoiding unnecessary biopsies. This study aimed to preliminarily define main imaging criteria and histological correlations of actinic keratosis (AK), Bowen\u2019s disease (BD) and squamous cell carcinoma (SCC) using the novel device line-field confocal optical coherence tomography (LC-OCT). Methods: Dermoscopy and LC-OCT images of 73 histopathologically confirmed lesions (46 AKs, 11 BD and 16 SCCs) were included in the study. Exemplary lesions (10 AKs, 5 BD and 5 SCCs) were additionally investigated with optical coherence tomography and reflectance confocal microscopy. Results: Most common LC-OCT findings of KC in the descriptive statistics were hyperkeratosis/parakeratosis, disruption of stratum corneum, broadened epidermis, basal and suprabasal keratinocyte atypia, dilated vessels/neoangiogenesis and elastosis/collagen alterations. In the univariate multinomial logistic regression, a preserved DEJ was less common in SCC compared with AK and BD, BD displayed marked keratinocyte atypia involving all epidermal layers (bowenoid pattern), while SCC showed ulceration, increased epidermal thickness, keratin plugs, acantholysis, not visible/interrupted DEJ and epidermal bright particles. LC-OCT increased the diagnostic confidence by 24.7% compared with dermoscopy alone. Conclusions: Our study describes for the first time specific LC-OCT features of different stages of KC and their histopathological correlates, focusing on keratinocyte morphology and architecture of the epidermis and DEJ. LC-OCT may open new scenarios in the bedside diagnosis, treatment planning and follow-up of KC

Impact of allergic reactions and urticaria on mental health and quality of life

Background: Allergic diseases represent a major global health issue with more than one-third of the global population affected by at least one allergic condition. Allergic conditions can not only cause life-threatening anaphylactic reactions but also impact daily life with a significant influence on mental health and the quality of life (QoL). Objectives: This study aims to evaluate the health-related QoL and depression severity among patients presenting in a tertiary care allergy center. Methods: A cross-sectional study was conducted among 596 patients presenting with allergic symptoms or previously diagnosed allergies between October 2018 and April 2019. Patients were screened for depression and the QoL impairment by using three validated scales: the Beck Depression Inventory (BDI), the Dermatologic Life Quality Index (DLQI), and the three-level version of the EuroQol 5-Dimensional (EQ-5D-3L) scale. Results: One-third (34.8%) of the study population was male and two-thirds (65.2%) were female. About 73.7% (n = 427/579) of the patients suffered from at least one previously diagnosed allergic disease, most frequently to pollen (37.0%, n = 214/579) and food (27.3%, n = 158/579), and 20.0 % (n = 116/579) suffered from urticaria. About 19.3% of the total population suffered from depression. Urticaria, as well as insect venom, food/food additives, and drug allergies significantly affected the QoL and depression severity (p < 0.001), reflected by higher DLQI and BDI scores, and lower scores in the EQ5D-3L index. Conclusion: Our results provide evidence for a possible correlation of allergies (e.g. against insect venom, food/food additives, and drugs) and/or urticaria with a reduced QoL and a higher depression rate. Patients particularly indicated restrictions for the dimensions, pain/discomfort as well as anxiety/depression. It might be beneficial to implement a standardized questionnaire as a regular screening method for evaluating the mental health status of patients with allergies and/or urticaria. (C) 2022 Codon Publications. Published by Codon Publications

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss

Abstract Background Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown. Objectives To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition. Methods Exome sequencing was performed in 27 patients diagnosed with SAH or with a complaint of short, nongrowing hair. The cohort was screened for variants with a minor allele frequency (MAF) &lt; 5% in the general population and a Combined Annotation Dependent Depletion (CADD) score &gt; 15, to identify genes whose variants were enriched in this cohort. Sanger sequencing was used for variant validation and screening of 21 additional individuals with the same clinical diagnosis and their relatives. Genetic association testing of SAH-related variants for male pattern hair loss (MPHL) was performed using UK Biobank data. Results Analyses revealed that 20 individuals (42%) carried mono- or biallelic pathogenic variants in WNT10A. Rare WNT10A variants are associated with a phenotypic spectrum ranging from no clinical signs to severe ectodermal dysplasia. A significant association was found between WNT10A and SAH, and this was mostly observed in individuals with light-coloured hair and regression of the frontoparietal hairline. Notably, the most frequent variant in the cohort [c.682T&gt;A;p.(Phe228Ile)] was in linkage disequilibrium with four common WNT10A variants, all of which have a known association with MPHL. Using UK Biobank data, our analyses showed that c.682T&gt;A;p.(Phe228Ile) and one other variant identified in the SAH cohort are also associated with MPHL, and partially explain the known associations between WNT10A and MPHL. Conclusions Our results suggest that WNT10A is associated with SAH and that SAH has a genetic overlap with the common phenotype MPHL. The presumed shared biologic effect of WNT10A variants in SAH and MPHL is a shortening of the anagen phase. Other factors, such as modifier genes and sex, may also play a role in the clinical manifestation of hair phenotypes associated with the WNT10A locus

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss

BACKGROUND: Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown. OBJECTIVES: To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition. METHODS: Exome sequencing was performed in 27 patients diagnosed with SAH or with a complaint of short, nongrowing hair. The cohort was screened for variants with a minor allele frequency (MAF) 15, to identify genes whose variants were enriched in this cohort. Sanger sequencing was used for variant validation and screening of 21 additional individuals with the same clinical diagnosis and their relatives. Genetic association testing of SAH-related variants for male pattern hair loss (MPHL) was performed using UK Biobank data. RESULTS: Analyses revealed that 20 individuals (42%) carried mono- or biallelic pathogenic variants in WNT10A. Rare WNT10A variants are associated with a phenotypic spectrum ranging from no clinical signs to severe ectodermal dysplasia. A significant association was found between WNT10A and SAH, and this was mostly observed in individuals with light-coloured hair and regression of the frontoparietal hairline. Notably, the most frequent variant in the cohort [c.682T>A;p.(Phe228Ile)] was in linkage disequilibrium with four common WNT10A variants, all of which have a known association with MPHL. Using UK Biobank data, our analyses showed that c.682T>A;p.(Phe228Ile) and one other variant identified in the SAH cohort are also associated with MPHL, and partially explain the known associations between WNT10A and MPHL. CONCLUSIONS: Our results suggest that WNT10A is associated with SAH and that SAH has a genetic overlap with the common phenotype MPHL. The presumed shared biologic effect of WNT10A variants in SAH and MPHL is a shortening of the anagen phase. Other factors, such as modifier genes and sex, may also play a role in the clinical manifestation of hair phenotypes associated with the WNT10A locus