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Background: Non‐syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging. Objectives: To determine clinical course and genotype‐phenotype correlations in children affected by non‐syndromic congenital ichthyosis in a case series from south‐western Germany. Methods: We performed a retrospective observational study of 32 children affected by non‐syndromic congenital ichthyoses seen in our genodermatosis clinic between 2011 and 2020. Follow‐ups included assessment of weight and severity of skin involvement utilizing a modified Ichthyosis Area Severity Index (mIASI). mIASI was calculated as a sum comprising the previously published IASI score and an additional novel score to evaluate palmoplantar involvement. Linear regression was assessed using Pearson correlation, and statistical analysis was performed using the Wilcoxon–Mann–Whitney test. Results: This study included 23 patients with autosomal recessive congenital ichthyosis, seven with keratinopathic ichthyosis and two with harlequin ichthyosis. Cutaneous manifestations improved in more than 70% of the children during the follow‐up. Especially in patients with mutations in ALOXE3 and ALOX12B, mIASI scores dropped significantly. The most common phenotype observed in this study was designated ′mild fine scaling ichthyosis′. Severe palmoplantar involvement occurred in patients with KRT1 and ABCA12 mutations; most patients demonstrated hyperlinearity as a sign of dryness and scaling. Weight was mainly in the normal range and negatively correlated with the severity of skin involvement. Conclusions: Congenital ichthyosis that self‐improves and evolves with mild fine scaling ichthyosis was the most common phenotype observed in our patients. This type might be underdiagnosed if the genetic diagnosis is not performed in the first year of life. mIASI is an easy and fast instrument for scoring disease severity and adding additional points for palmoplantar involvement might be valuable. [ABSTRACT FROM AUTHOR]

Summary: Autosomal recessive epidermolytic ichthyosis is a rare skin condition associated with KRT10 loss‐of‐function mutations. It presents with severe life‐threatening clinical manifestations. Here we describe a case of autosomal recessive epidermolytic ichthyosis with an unusually mild, spontaneously improving phenotype. Erythroderma and superficial blistering were present at birth, but the skin recovered and remained almost intact at the age of 1 year. Mild scaling on the neck and skin fragility manifesting as superficial erosions after scratching were the only clinical features as the child grew. As a cause, previously unreported compound heterozygous KRT10 pathogenic variants were found: a nonsense mutation leads to mRNA decay, while the other synonymous variant induces a leaky splice site, explaining the residual keratin 10 expression and mild clinical phenotype. What's already known about this topic? Autosomal recessive epidermolytic ichthyosis is a rare skin condition caused by loss‐of‐function KRT10 mutations.The clinical phenotype is severe with superficial skin blistering, scaling and hyperkeratosis. What does this study add? Here we extend the mutational and phenotypic spectrum of autosomal recessive epidermolytic ichthyosis.Our case presented with erythroderma and superficial blistering at birth, but the skin recovered and was almost intact at the age of 1 year. The only disease manifestations were mild scaling on the neck and skin fragility appearing as superficial erosions after scratching.The causative factors were found to be one nonsense mutation in KRT10 that leads to mRNA decay, and one synonymous variant that affects the donor splice site of exon 3.We hypothesize that this leaky splice site explains the residual keratin 10 expression and self‐improving clinical phenotype. [ABSTRACT FROM AUTHOR]

Pathogenetic-based topical treatment with statins that target the mevalonate pathway and cholesterol biosynthesis was recently shown to be effective in disseminated porokeratosis.8 Here we performed molecular genetic analysis of skin samples of eight patients with disseminated porokeratosis. (a) Before treatment, the patient presented porokeratotic lesions on the arms and legs. Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and immunohistochemical analysis of anti-Slingshot homolog 1 antibody in one typical patient. [Extracted from the article]

Summary: Background: Basal cell carcinoma (BCC) is the most common skin cancer in the general population. Treatments vary from Mohs surgery to topical therapy, depending on the subtype. Dermoscopy, reflectance confocal microscopy (RCM) and optical coherence tomography (OCT) have gained a foothold in daily clinical practice to optimize diagnosis and subtype‐oriented treatment. The new technique of line‐field confocal OCT (LC‐OCT) allows imaging at high resolution and depth, but its use has not yet been investigated in larger studies. Aim: To evaluate the main LC‐OCT criteria for the diagnosis and subtyping of BCC compared with histopathology, OCT and RCM. Methods: In total, 52 histopathologically confirmed BCCs were evaluated for imaging criteria. Their frequency, predictive values and ROC curves were calculated. A multinominal regression with stepwise variables selection to distinguish BCC subtypes was performed. Results: Nodular BCCs were mainly characterized by atypical keratinocytes, altered dermoepidermal junction (DEJ), tumour nests in the dermis, dark clefting, prominent vascularization and white hyper‐reflective stroma. Superficial BCCs showed a thickening of the epidermis due to a series of tumour lobules with clear connection to the DEJ (string of pearls pattern). Infiltrative BCCs were characterized by elongated hyporeflective tumour strands, surrounded by bright collagen (shoal of fish pattern). The overall BCC subtype agreement between LC‐OCT and conventional histology was 90.4% (95% CI 79.0–96.8). Conclusion: LC‐OCT allows noninvasive, real‐time identification of BCCs and their subtypes in vertical, horizontal and three‐dimension mode compared with histology, RCM and OCT. Further larger studies are needed to better explore the clinical applications of this promising device. [ABSTRACT FROM AUTHOR]

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's 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. [ABSTRACT FROM AUTHOR]

Purpose: Differences in resting energy expenditure (REE) between men and women mainly result from sex-related differences in lean body mass (LBM). So far, a little is known about whether REE and LBM are reflected by a distinct human metabolite profile. Therefore, we aimed to identify plasma and urine metabolite patterns that are associated with REE and LBM of healthy subjects. Methods: We investigated 301 healthy male and female subjects (18–80 years) under standardized conditions in the cross-sectional KarMeN (Karlsruhe Metabolomics and Nutrition) study. REE was determined by indirect calorimetry and LBM by dual X-ray absorptiometry. Fasting blood and 24 h urine samples were analyzed by targeted and non-targeted metabolomics methods using GC × GC–MS, GC–MS, LC–MS, and NMR. Data were evaluated by predictive modeling of combined data using different machine learning algorithms, namely SVM, glmnet, and PLS. Results: When evaluating data of men and women combined, we were able to predict REE and LBM with high accuracy (> 90%). This, however, was a clear effect of sex, which is supported by the high degree of overlap in identified important metabolites for LBM, REE, and sex, respectively. The applied machine learning algorithms did not reveal a metabolite pattern predictive of REE or LBM, when analyzing data for men and women, separately. Conclusions: We could not identify a sex independent predictive metabolite pattern for REE or LBM. REE and LBM have no impact on plasma and urine metabolite profiles in the KarMeN Study participants. Studies applying metabolomics in healthy humans need to consider sex specific data evaluation. [ABSTRACT FROM AUTHOR]

Vegetable amaranth ( Amaranthus cruentus L.) is gaining importance among the African indigenous leafy vegetables (AIVs) in the diets of many households in Africa. However, improper processing, handling, and storage of AIVs often result in faster deterioration thus high quantitative and qualitative losses with reduced availability of these highly nutritive and health promoting plants. Targeted application of UV-C has been shown to induce beneficial physiological responses of crops after harvest. The present study was conducted to evaluate the effects of postharvest UV-C application on health promoting secondary plant compounds of vegetable amaranth cv. Madiira. Eight weeks after planting, leaves were harvested and treated with UV-C (254 nm) at either 1.7 kJ m −2 or 3.4 kJ m −2 while untreated leaves served as control. The leaves were kept up to 4 d and 14 d at 20 °C (65% RH) and 5 °C (85% RH), respectively. Characteristic health promoting plant compounds, such as vitamin E, carotenoids, flavonoids, phenolic acids, as well as glutathione peroxidase (GPOX) activity and antioxidant capacity (TEAC) and their correlations were analyzed. Results showed that the accumulation of secondary metabolites was dependent on UV-C dosage, storage temperature and duration. Vitamin E, carotenoids (e.g. lycopene, β-carotene and lutein), flavonoids (e.g. quercetin and kaempferol derivatives), phenolic acids (e.g. ferulic, coumaric and caffeic acid derivatives) as well as GPOX activity and TEAC increased in UV-C treated vegetable amaranth leaves compared with the untreated samples. Furthermore, there was a relationship in most studied secondary compounds and TEAC. The UV-C effects at both storage conditions were comparable for most studied compounds while storage duration variedly affected the compounds studied. The increase in the studied secondary plant compounds is attributed to their plant defense mechanism against oxidative damage of plant tissues by UV-C irradiation. This could be an important strategy in reducing the loss of secondary plant compounds, hence maintaining nutritional and health promoting properties of AIVs during postharvest supply chain. [ABSTRACT FROM AUTHOR]