The latest medical research on Dermatology

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about dermatology gathered by our medical AI research bot.

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Credibility and Generalization of the Minimally Important Difference Concept in Dermatology: A Scoping Review.

JAMA Dermatology

The minimally important difference (MID) represents the point at which a difference in an outcome measure (eg, Dermatology Life Quality Index) is important enough that it warrants a change in treatment, and, to the authors' knowledge, the robustness and limitations of MIDs have not been thoroughly evaluated in skin diseases. The MID is increasingly used in clinical trials to demonstrate that an intervention is worthwhile for patients; furthermore, MIDs also contribute to sample size calculations in clinical trials, influence treatment guidelines, and can guide clinicians to modify treatment.

To evaluate the credibility and generalization of MIDs for patient-reported outcome measures (PROMs) in skin disorders.

A systematic search was conducted in PubMed and Embase for all original articles using the MID concept for skin disorders from inception to December 29, 2021. The credibility of MIDs obtained via an anchor-based approach (eg, global rating of change scale) was assessed with a previously developed credibility instrument. The validity of generalizing established MIDs to other patient groups was evaluated based on the diagnosis and the patient characteristics.

A total of 126 articles were selected, and 84 different MIDs were identified for PROMs. A total of 13 of 84 MIDs (15.5%) for PROMs displayed acceptable credibility. The anchors used had varying capacity to assess minimal important changes from a patient's perspective and were deemed inappropriate for this purpose in 52 of 84 cases (61.9%). Correlations between the anchors and PROMs were frequently not determined (39 of 84; 46.4%). The time interval for anchor questions assessing a change in the experienced disease burden was not optimal for 10 of 32 transition anchors (>3 months), introducing potential recall bias. Previously reported MIDs were widely used to examine relevant changes in other study populations. However, the diagnosis and disease severity were different from the original MID population in 39 of 70 (55.7%) and 45 of 70 (64.3%) cases, respectively.

In this scoping review, only a minority of MIDs for PROMs demonstrated sufficient credibility in dermatology. Inappropriate generalization of previously reported MIDs to patient populations with different disease characteristics was found to be a major concern. Furthermore, the study supported the use of multiple anchors and encouraged consistent reporting of the correlation between changes in the anchor and changes in the outcome measures.

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

JAMA Dermatology

Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far.

To elucidate the genetic spectrum of UHS.

This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021.

Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes.

The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene.

This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.

Association Between Low-Dose Methotrexate Exposure and Melanoma: A Systematic Review and Meta-analysis.

JAMA Dermatology

Methotrexate is widely used for the treatment of inflammatory disorders, including rheumatoid arthritis. Studies suggest that methotrexate may be associated with an increased risk of melanoma.

To determine whether methotrexate exposure is associated with an increased risk of cutaneous melanoma.

MEDLINE, Embase, Cochrane Central Register of Controlled Trials, and were searched from inception to May 12, 2022, for eligible studies.

Case-control studies, cohort studies, or randomized clinical trials (RCTs) were included if they examined the odds or risk of cutaneous melanoma in individuals exposed to low-dose methotrexate in comparison with individuals unexposed. No language limitations were applied.

Two independent reviewers extracted data on study characteristics and outcome data. The Meta-analysis of Observational Studies in Epidemiology guidelines were followed. To assess study quality, the Cochrane risk of bias tool was used for RCTs, and the Joanna Briggs Institute Checklist was used for cohort and case-control studies. Odds ratio from case-control studies and relative risk or hazard ratio from cohort studies or RCTs were pooled, and a random-effects model meta-analysis was conducted.

Prespecified outcome was the odds ratio, hazard ratio, or risk ratio of cutaneous melanoma comparing low-dose methotrexate exposure with nonexposure.

Seventeen studies (8 RCTs, 5 cohort studies, 4 case-control studies) were eligible for inclusion, and of these, 12 studies with 16 642 cases of melanoma were pooled in the primary analysis. Indications for methotrexate included rheumatoid arthritis, psoriasis, psoriatic arthritis, and inflammatory bowel disease and were unknown in 5 studies. Compared with unexposed individuals, study participants with methotrexate exposure had a small increased risk of melanoma (pooled relative risk, 1.15; 95% CI, 1.08-1.22), but this did not persist in a sensitivity analysis excluding the largest study (pooled relative risk, 1.11; 95% CI, 1.00-1.24). Subgroup analyses according to comparator group (comparing methotrexate exposure with either immunomodulator alone vs immunomodulator and methotrexate) or the indication for methotrexate being rheumatoid arthritis provided similar risk estimates. Using geographical population melanoma incidence rates, a number needed to harm of 18 630 was calculated in Australia, and 41 425 in North America.

In this systematic review and meta-analysis, low-dose methotrexate exposure was associated with an increased melanoma risk, but the absolute risk increase could be considered negligible.

Dermoscopic findings and histopathological correlation in large cell acanthoma.

Australasian Journal of Dermatology

Since large cell acanthoma (LCA) has many overlapping clinical and histopathological features with other epidermal pigmented tumours, an additional...

Association of Risk of Incident Venous Thromboembolism With Atopic Dermatitis and Treatment With Janus Kinase Inhibitors: A Systematic Review and Meta-analysis.

JAMA Dermatology

The risk of venous thromboembolism (VTE) among patients with atopic dermatitis (AD), especially when receiving treatment with Janus kinase (JAK) inhibitors, is unclear.

To determine the association of AD with incident VTE and evaluate the risk of incident VTE among patients with AD who were receiving treatment with JAK inhibitors.

The MEDLINE, Embase, Cochrane Library, and Web of Science databases were searched with no restrictions on language nor geographic locations from their respective inception to February 5, 2022.

Cohort studies examining the association of AD with incident VTE and randomized clinical trials (RCTs) reporting VTE events in participants with AD receiving JAK inhibitors were included. Around 0.7% of initially identified articles met the selection criteria.

The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline was followed. The risk of bias of included cohort studies and RCTs was assessed by the Newcastle-Ottawa Scale and the Cochrane Risk of Bias Tool 2, respectively. A random-effects model meta-analysis was conducted to calculate the pooled hazard ratio (HR) and risk difference for incident VTE.

The HRs for incident VTE associated with AD and risk difference for incident VTE between participants with AD who were receiving treatment with JAK inhibitors and controls receiving placebo or dupilumab.

Two cohort studies and 15 RCTs with a total of 466 993 participants were included. The meta-analysis found no significant association of AD with incident VTE (HR, 0.95; 95% CI 0.62-1.45; incidence rate of VTE, 0.23 events/100 patient-years). Overall, 3 of 5722 patients with AD (0.05%) who were receiving treatment with JAK inhibitors experienced VTE compared with 1 of 3065 patients with AD (0.03%) receiving placebo or dupilumab (Mantel-Haenszel risk difference, 0; 95% CI, 0-0). The incidence rate of VTE was 0.15 and 0.12 events per 100 patient-years in participants with AD receiving JAK inhibitors and placebo, respectively. The findings were similar in 4 unique JAK inhibitors (abrocitinib, baricitinib, upadacitinib, and SHR0302).

The results of this systematic review and meta-analysis suggest that the currently available evidence does not detect an increased risk of VTE associated with AD or treatment with JAK inhibitors. These findings may provide a reference for clinicians in prescribing JAK inhibitors for patients with AD.

Clinical and Pathological Characteristics and Outcomes Among Patients With Subcutaneous Panniculitis-like T-Cell Lymphoma and Related Adipotropic Lymphoproliferative Disorders.

JAMA Dermatology

There is a knowledge gap about subcutaneous panniculitis-like T-cell lymphoma (SPTCL) owing to its rarity and diagnostic difficulty, resulting in an absence of well-documented large case series published to date.

To generate consensus knowledge by a joint multi-institutional review of SPTCL and related conditions.

This retrospective clinical and pathological review included cases initially diagnosed as SPTCL at 6 large US academic centers. All cases were reviewed by a group of pathologists, dermatologists, and oncologists with expertise in cutaneous lymphomas. Through a process of group consensus applying defined clinical and pathological diagnostic criteria, the cohort was classified as (1) SPTCL or (2) adipotropic lymphoproliferative disorder (ALPD) for similar cases with incomplete histopathological criteria for SPTCL designation.

Cases of SPTCL diagnosed between 1998 and 2018.

The main outcome was disease presentation and evolution, including response to therapy, disease progression, and development of hemophagocytic lymphohistiocytosis.

The cohort of 95 patients (median [range] age, 38 [2-81] years; female-to-male ratio, 2.7) included 75 cases of SPTCL and 20 cases of ALPD. The clinical presentation was similar for both groups with multiple (61 of 72 [85%]) or single (11 of 72 [15%]) tender nodules mostly involving extremities, occasionally resulting in lipoatrophy. Hemophagocytic lymphohistiocytosis (HLH) was only observed in SPTCL cases. With a mean follow-up of 56 months, 60 of 90 patients (67%) achieved complete remission with a median (range) of 3 (1-7) cumulative therapies. Relapse was common. None of the patients died of disease progression or HLH. Two patients with ALPD eventually progressed to SPTCL without associated systemic symptoms or HLH.

In this case series of patients initially diagnosed as having SPTCL, results showed no evidence of systemic tumoral progression beyond the adipose tissue. The SPTCL experience in this study confirmed an indolent course and favorable response to a variety of treatments ranging from immune modulation to chemotherapy followed by hematopoietic stem cell transplantation. Morbidity was primarily associated with HLH.

Dermatological considerations and culturally sensitive recommendations for women who wear the hijab.

British Journal of Dermatology

Currently, there is little guidance in the literature on how to advise patients who wear the hijab on hijab-related dermatoses. This manuscript des...

Alcohol and Psoriasis for the Dermatologist: Know, Screen, Intervene.

American Journal of Clinical Dermatology

Psoriasis patients are at increased risk of harmful alcohol use and alcohol dependency with many deleterious effects. Increasing alcohol use is ass...

Is routine laboratory testing in healthy young patients taking isotretinoin necessary - a critically appraised topic.

British Journal of Dermatology

Is monitoring of liver function, lipids and full blood count necessary in healthy people taking isotretinoin?

Routine blood testing was recommended in the original licence for RoaccutaneTM in 1983. In recent years, less frequent monitoring has been suggested by various authors.

Two independent reviewers (J.A. and D.J.) assessed articles for eligibility of inclusion. Evaluation of the data was done also by two of the authors (A.A., D.J., and JA) for each section, with the aim to use the presented evidence including guidelines, databases, case series, case reports, cohort studies and randomized clinical trials to delineate the clinical presentation and frequency of adverse events which might be amenable to laboratory monitoring.

We identified 406 papers in our searches and reviewed 127 papers in four sections. In summary reported adverse events were very rare (less than 1 in 10,000) and either idiosyncratic or not preventable by monitoring, were accompanied by symptoms, or occurred in identifiable predisposed individuals that may benefit from monitoring because of pre-existing conditions.

We could not find evidence to support the benefit of monitoring to detect adverse events. We suggest that in healthy young people laboratory monitoring for oral isotretinoin is unnecessary and risks detecting non-serious biochemical abnormalities. However, we recognise that new information about adverse events may change that recommendation.

Efficacy and safety of topical brepocitinib for the treatment of mild-to-moderate atopic dermatitis: a phase IIb, randomised, double-blind, vehicle-controlled, dose-ranging, and parallel-group study.

British Journal of Dermatology

Atopic dermatitis (AD) is a prevalent inflammatory, pruritic skin disease. The Janus kinase (JAK) pathway is a treatment target.

To assess the efficacy, safety and pharmacokinetics of topical cream brepocitinib, a small molecule tyrosine kinase 2 (TYK2/JAK1 inhibitor), in participants with mild-to-moderate AD.

In this phase IIb, double-blind, dose-ranging study, participants were randomised to receive one of eight treatments for 6 weeks: brepocitinib 0·1% once daily (QD), 0·3% QD or twice daily (BID), 1·0% QD or BID, 3·0% QD, or vehicle QD or BID. The primary endpoint was the percent change from baseline in eczema area and severity index (EASI) total score at week 6. Adverse events (AEs) were monitored.

Overall, 292 participants were enrolled and randomised. The brepocitinib 1% QD and 1% BID groups achieved statistically significantly greater (with multiplicity-adjusted p<0·05 due to Hochberg's step-up method) percent reductions from baseline in EASI total score at week 6 (least squares mean [90% confidence interval (CI)]: QD, -70·1 [-82·1, -58·0]; BID, -75·0 [-83·8, -66·2]) compared with respective vehicle (QD, -44·4 [-57·3, -31·6]; BID: -47·6 [-57·5, -37·7]). There was not a dose-dependent trend in AE frequency, and there were no serious AEs or deaths.

Topical brepocitinib is effective and well tolerated in participants with mild-to-moderate AD. This trial is registered with and with EudraCT (2018-003050-24).

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.

British Journal of Dermatology

Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11.4 Mb interval on chromosome Xq25-q27.1. However, the genetic mechanism of BDCS remains an open question.

To investigate the genetic etiology and molecular mechanisms underlying BDCS.

We ascertained multiple individuals, from eight unrelated families, affected with BDCS (F1-F8). Whole exome (F1 and F2) and genome sequencing (F3) were performed to identify putative disease-causing variants within the linkage region. Array-comparative genomic hybridization and quantitative PCR were used to explore copy number variations (CNV), followed by long-range gap-PCR and Sanger sequencing to amplify the duplication junctions and to define the head-tail junctions. Hi-C was performed on dermal fibroblasts from two affected individuals with BDCS and one control. Public datasets and tools were used to identify regulatory elements and transcription factor binding sites within the minimal duplicated region. Immunofluorescence was performed in hair follicles, BCCs and trichoepitheliomas from BDCS patients and sporadic BCCs. The ACTRT1 variant (p.Met183Asnfs*17), previously proposed to cause BDCS, was evaluated with allele frequency calculator.

In eight BDCS families, we identified overlapping 18-135kb duplications (six inherited and two de novo) at Xq26.1, flanked by ARHGAP36 and IGSF1. Hi-C showed the duplications didn't affect the topologically associated domain (TAD), but may alter the interactions between flanking genes and putative enhancers located in the minimal duplicated region. We detected ARHGAP36 expression near the control hair follicular stem cells compartment, and found increased ARHGAP36 levels in hair follicles in telogen, BCCs and trichoepitheliomas from patients with BDCS. ARHGAP36 was also detected in sporadic BCCs from individuals without BDCS. Our modelling showed the predicted ACTRT1 variants maximum tolerated minor allele frequency in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss-of-function of ACTRT1 variants to be an unlikely cause for BDCS.

Noncoding Xq26.1 duplications cause BDCS., The BDCS duplications most likely lead to dysregulation of ARHGAP36. ARHGAP36 is a potential therapeutic target for both inherited and sporadic BCCs.

Highlighting adalimumab as a treatment option for systemic treatment of toxic epidermal necrolysis: A case series from a tertiary specialised burns centre.

Australasian Journal of Dermatology

Toxic epidermal necrolysis and Stevens-Johnson Syndrome describe a spectrum of severe cutaneous skin reactions constituting a medical emergency, an...