Genetic factors associated with hidradenitis suppurativa, a literature review.

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory disease characterized by deep-seated, painful lesions most frequently occurring in intertriginous areas of the skin. HS leads to poor quality of life in affected individuals and is difficult to diagnose and treat. Objective: Understanding the genetics associated with familial inheritance may lead to a better understanding of the pathogenesis of this debilitating disease. Methods: Articles published until March 9, 2023, were identified in PubMed using the following search terms: hidradenitis suppurativa and gene* or acne inversa and gene*. Results: The rate of monogenic mutations associated with HS is less than 7%, with the most common genetic mutations reported in sporadic and familial HS cases being in NCSTN and less frequently in PSENEN. Individuals with mutations in the gamma-secretase complex tended to have more severe HS and an early age of onset. Limitations: This study was limited to the case studies available in PubMed, the majority of which used targeted gene panels to detect genetic mutations. Conclusion: Approximately 30% of individuals diagnosed with HS report having a positive family history; however, very few studies demonstrate monogenic familial transmission of HS. The case studies of syndromic HS reported a variety of genetic mutations associated with HS, some of which were familial, while others were sporadic, suggesting that other pathways may be involved in the pathogenesis of HS and other potential mutations that have yet to be evaluated. More research is needed to understand the genetic mutations in HS.

Superficial Acral Fibromyxoma on the Thumb-Nail Bed.

Superficial acral fibromyxoma, also known as digital fibromyxoma, is a benign soft tissue tumor. The acral regions, including the palms, soles, fingers, toes, and nail units, are the commonly affected locations. The subungual region of the great toe is the most common site reported in current literature. The tumor is slowly progressive and benign in nature. Histology commonly reveals a fibromyxoid neoplasm with immunoreactivity to CD34 and CD99 markers.1,2,3 We present the case of a 39-year-old female with a nine-year history of repetitive digital trauma presenting with superficial acral fibromyxoma of the thumb-nail bed. Our case is unique due to the tumor location and the patient's prior long history of trauma to the tumor site.

Applications and Best Practices for Geospatial Analysis Research in Dermatology.

Dermatologic diseases often exhibit distinct geographic patterns, underscoring the significant role of regional environmental, genetic, and sociocultural factors in driving their prevalence and manifestations. Geographic information and geospatial analysis enable researchers to investigate the spatial distribution of adverse health outcomes and their relationship with socioeconomic and environmental risk factors that are inherently geographic. Health geographers and spatial epidemiologists have developed numerous geospatial analytical tools to collect, process, visualize, and analyze geographic data. These tools help provide vital spatial context to the comprehension of the underlying dynamics behind health outcomes. By identifying areas with high rates of dermatologic disease and areas with barriers to access to quality dermatologic care, findings from studies utilizing geospatial analysis can inform the design and targeting of policy and intervention to help improve dermatologic healthcare outcomes and promote health equity. This article emphasizes the significance of geospatial data and analysis in dermatology research. We explore the common processes in data acquisition, harmonization, and geospatial analytics while conducting spatially and dermatologically relevant research. The article also highlights the practical application of geospatial analysis through instances drawn from the dermatology literature.

Evidence-Based Performance Measures for Reconstruction after Skin Cancer Resection: A Multidisciplinary Performance Measure Set.

BACKGROUND: The American Society of Plastic Surgeons commissioned the multidisciplinary Performance Measure Development Work Group on Reconstruction after Skin Cancer Resection to identify and draft quality measures for the care of patients undergoing skin cancer reconstruction. Included stakeholders were the American Academy of Otolaryngology-Head and Neck Surgery, the American Academy of Facial Plastic and Reconstructive Surgery, the American Academy of Dermatology, the American Society of Dermatologic Surgery, the American College of Mohs Surgery, the American Society for Mohs Surgery, and a patient representative. METHODS: Two outcome measures and five process measures were identified. The outcome measures included the following: (1) patient satisfaction with information provided by their surgeon before their facial procedure, and (2) postprocedural urgent care or emergency room use. The process measures focus on antibiotic stewardship, anticoagulation continuation and/or coordination of care, opioid avoidance, and verification of clear margins. RESULTS: All measures in this report were approved by the American Society of Plastic Surgeons Quality and Performance Measures Work Group and Executive Committee, and the stakeholder societies. CONCLUSION: The work group recommends the use of these measures for quality initiatives, Continuing Medical Education, Continuous Certification, Qualified Clinical Data Registry reporting, and national quality reporting programs.

Performance measurement part I: Foundational knowledge for measure development.

As medicine is moving toward performance and outcome-based payment and is transitioning away from productivity-based systems, value is now being appraised in healthcare through "performance measures." Over the past few decades, assessment of clinical performance in health care has been essential in ensuring safe and cost-effective patient care. The Centers for Medicare & Medicaid Services is further driving this change with measurable, outcomes-based national payer incentive payment systems. With the continually evolving requirements in health care reform focused on value-based care, there is a growing concern that clinicians, particularly dermatologists, may not understand the scientific rationale of health care quality measurement. As such, in order to help dermatologists understand the health care measurement science landscape to empower them to engage in the performance measure development and implementation process, the first article in this 2-part continuing medical education series reviews the value equation, historic and evolving policy issues, and the American Academy of Dermatology's approach to performance measurement development to provide the required foundational knowledge for performance measure developers.

Performance measurement part II: A guide to developing dermatology performance measures.

Throughout the 21st century, national and local governments, private health sectors, health insurance companies, healthcare professionals, labor unions, and consumers have been striving to develop an effective approach to evaluate, report, and improve the quality of healthcare. As medicine improves and health systems grow to meet patient needs, the performance measurement system of care effectiveness must also evolve. Continual efforts should be undertaken to effectively measure quality of care to create a more informed public, improve health outcomes, and reduce healthcare costs. As such, recent policy reform has necessitated that performance systems be implemented in healthcare, with the "performance measure" being the foundation of the system in which all of healthcare must be actively engaged in to ensure optimal care for patients. The development of performance measures can be highly complex, particularly when creating specialty-specific performance measures. To help dermatologists understand the process of creating dermatology-specific performance measures to engage in creating or implementing performance measures at the local or national levels, this article in the two-part continuing medical education series reviews the types, components, and process of developing, reviewing, and implementing performance measures.

Subcorneal Pustular Dermatosis Following SARS-CoV-2 Infection.

Subcorneal pustular dermatosis (SPD), also called Sneddon-Wilkinson disease, is a rare, relapsing pustular dermatosis.1 SPD has been associated with multiple myeloma, IgA Gammopathy, pyoderma gangrenosum and certain autoimmune diseases.2 However, SPD occurrence following SARS-COV-2 has not yet been reported. Herein, we report a case of SPD occurring after SARS-CoV-2 infection in a 52-year-old male. We hypothesize that the occurrence of SPD shortly following SARS-CoV-2 infection suggests the viral illness may have precipitated onset of SPD, and the patient may remain at risk for future flares of disease despite appropriate treatment and current remission status.

Understanding melanoma in situ: Lentigo maligna surgical treatment terminology and guideline adherence, a targeted review.

BACKGROUND: Malignant melanoma in-situ, lentigo maligna (MMIS-LM) can be successfully treated with several different surgical techniques; however, the literature is inconsistent in defining them. OBJECTIVE: To comprehensively define and describe the national guideline recommended surgical techniques used to treat MMIS-LM to help clarify and standardize this terminology to ensure compliance with the guidelines. METHODS: A targeted literature review was performed from 1990 to 2022 focusing on articles that discussed the national guideline recommended surgical techniques of wide local excision, Mohs micrographic surgery (MMS), modified Mohs surgery, and staged excision/Slow-Mohs for MMIS-LM, as well as the related methods of tissue processing. National Comprehensive Cancer Network and American Academy of Dermatology guidelines were reviewed to identify how the techniques need to be employed to be compliant with guideline recommendations. RESULTS: We describe the various surgical and tissue processing techniques and discuss advantages and disadvantages of each. LIMITATIONS: This paper was styled as a narrative review defining and clarifying terminology and technique and does not investigate these topics more broadly. CONCLUSION: Understanding the methodology and terminology for these surgical procedures and tissue processing methods is critical so that both general dermatologists and surgeons can employ these techniques effectively for optimal patient care.

Host and primary tumor factors for the development of multiple cutaneous squamous cell carcinomas among a retrospective cohort in Rhode Island.

INTRODUCTION: Risk factors for a primary cutaneous squamous cell carcinoma (CSCC) are well-established; however, the host and primary tumor risk factors for subsequent CSCC have not been fully explored. METHODS: We performed a retrospective chart review of patients diagnosed with CSCC in an academic dermatology clinic in Rhode Island from 2016-2019. Logistic regression was used to evaluate the associations between host factors and multiple CSCC and between primary tumor characteristics and the risk of subsequent CSCC. Adjusted odds ratios (aORs) and 95% CIs were calculated. RESULTS: A total of 1312 patients with CSCC diagnoses were included. Host risk factors significantly associated with multiple CSCCs included: aged >80 years (aOR, 2.18; 95% CI, 1.46-3.31); history of: solid organ transplant (aOR, 2.41; 95% CI, 1.20-4.80); skin cancer (aOR, 1.96; 95% CI, 1.52-2.54); other cancer (aOR, 1.49; 95% CI, 1.11-2.00); family history of skin cancer (aOR, 1.36; 95% CI, 1.03-1.78); and actinic keratosis (aOR, 1.52; 95% CI, 1.18-1.95). Tumor location, diameter, histologic differentiation, and treatment were not significant predictors of subsequent CSCCs. LIMITATIONS: Study patients were predominantly White and from a single institution, limiting the generalizability of results. CONCLUSIONS: Certain host characteristics were associated with the development of subsequent CSCC, which may inform clinical guidelines for follow-up.

Improved cutaneous melanoma survival stratification through integration of 31-gene expression profile testing with the American Joint Committee on Cancer 8th Edition Staging.

Cutaneous melanoma (CM) survival is assessed using averaged data from the American Joint Committee on Cancer 8th edition (AJCC8). However, subsets of AJCC8 stages I-III have better or worse survival than the predicted average value. The objective of this study was to determine if the 31-gene expression profile (31-GEP) test for CM can further risk-stratify melanoma-specific mortality within each AJCC8 stage. This retrospective multicenter study of 901 archival CM samples obtained from patients with stages I-III CM assessed 31-GEP test predictions of 5-year melanoma-specific survival (MSS) using Kaplan-Meier and Cox proportional hazards. In stage I-III CM population, patients with a Class 2B result had a lower 5-year MSS (77.8%) than patients with a Class 1A result (98.7%) and log-rank testing demonstrated significant stratification of MSS [χ2 (2df, n = 901) = 99.7, P < 0.001). Within each stage, 31-GEP data provided additional risk stratification, including in stage I [χ2 (2df, n = 415) = 11.3, P = 0.004]. Cox regression multivariable analysis showed that the 31-GEP test was a significant predictor of melanoma-specific mortality (MSM) in patients with stage I-III CM [hazard ratio: 6.44 (95% confidence interval: 2.61-15.85), P < 0.001]. This retrospective study focuses on Class 1A versus Class 2B results. Intermediate results (Class 1B/2A) comprised 21.6% of cases with survival rates between Class 1A and 2B, and similar to 5-year MSS AJCC stage values. Data from the 31-GEP test significantly differentiates MSM into lower (Class 1A) and higher risk (Class 2B) groups within each AJCC8 stage. Incorporating 31-GEP results into AJCC8 survival calculations has the potential to more precisely assess survival and enhance management guidance.