RESUMEN
Understanding the genetic adaptations that occurred as humans migrated out of Africa to higher latitudes helps explain on a population-wide level how UV radiation (UVR) exposure will have varying consequences and benefits in patients of different skin pigmentations. It has been hypothesized that the need for efficient vitamin D synthesis was the primary driver for the skin-lightening process that evolutionarily occurred as humans migrated to higher latitudes. This review analyzes the level of support for the hypothesis that skin lightening occurred to enable adequate vitamin D synthesis in populations that migrated to areas with less UVR. Our literature search supported the hypothesis that through natural selection and intricate genetic adaptations, humans who migrated to areas with lower levels of UVR underwent a skin-lightening process to avoid the consequences of vitamin D deficiency. Our review includes an analysis of migration patterns out of Africa and how these affected pigmentation genes that are found in certain ethnic populations can be used to better understand this critical adaptation process when counseling patients on the need for sun protection.
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Adaptación Fisiológica , Pigmentación de la Piel , Rayos Ultravioleta , Vitamina D , Humanos , Migración Humana , Selección Genética , Luz Solar/efectos adversos , Rayos Ultravioleta/efectos adversos , Vitamina D/metabolismo , Deficiencia de Vitamina DRESUMEN
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.
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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.
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Fibroma , Pulgar , Femenino , Humanos , Adulto , DedosRESUMEN
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.
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Dermatología , Humanos , Promoción de la SaludAsunto(s)
Exantema , Prurito , Humanos , Prurito/diagnóstico , Prurito/etiología , Pierna , Exantema/diagnóstico , Exantema/etiologíaRESUMEN
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.
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Neoplasias Cutáneas , Cirujanos , Humanos , Neoplasias Cutáneas/cirugía , Piel , Cirugía de Mohs , Academias e InstitutosRESUMEN
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.
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Melanoma , Neoplasias Cutáneas , Perfilación de la Expresión Génica/métodos , Humanos , Melanoma/patología , Estadificación de Neoplasias , Pronóstico , Estudios Retrospectivos , Neoplasias Cutáneas/patología , Transcriptoma , Estados Unidos , Melanoma Cutáneo MalignoRESUMEN
Importance: Reconstructing cosmetically sensitive defects in an aging population undergoing multiple Mohs micrographic surgeries (MMS) may be addressed with alternatives to surgery. Objective: Patients undergoing MMS with defect reconstruction in visually prominent areas receiving placental allograft were compared with traditional autologous tissue-based procedures-flaps and full-thickness skin grafts (FTSG). Design, Setting, and Participants: This retrospective case-control study evaluated patients who underwent MMS for removal of a basal or squamous cell carcinoma with same-day repair. Main Outcomes and Measures: The primary endpoint was the incidence and comparison of postoperative morbidity. Risk for developing medical or cosmetic sequelae was determined through multivariate logistic regression. Results: The study population consisted of 143 propensity score-matched pairs (n = 286) with moderate- to high-risk defects on the face, head, and neck. Compared with autologous tissue, placental allograft cases were associated with significantly lower risk for infection (p = 0.004), poor scar cosmesis (p < 0.0001), scar revision (p < 0.0001), or reoperation (p = 0.0007). Conclusions and Relevance: Postoperative complication rates for placental reconstructions did not exceed those demonstrated by autologous tissue counterparts, indicating this is a safe alternative to flap and FTSG in cosmetically sensitive repairs.
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Amnios/trasplante , Carcinoma Basocelular/cirugía , Carcinoma de Células Escamosas/cirugía , Corion/trasplante , Cirugía de Mohs , Procedimientos de Cirugía Plástica/métodos , Neoplasias Cutáneas/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Puntaje de Propensión , Estudios Retrospectivos , Trasplante de Piel , Trasplante Autólogo , Resultado del TratamientoRESUMEN
The incidence of primary cutaneous melanoma continues to increase each year. Melanoma accounts for the majority of skin cancer-related deaths, but treatment is usually curative following early detection of disease. In this American Academy of Dermatology clinical practice guideline, updated treatment recommendations are provided for patients with primary cutaneous melanoma (American Joint Committee on Cancer stages 0-IIC and pathologic stage III by virtue of a positive sentinel lymph node biopsy). Biopsy techniques for a lesion that is clinically suggestive of melanoma are reviewed, as are recommendations for the histopathologic interpretation of cutaneous melanoma. The use of laboratory, molecular, and imaging tests is examined in the initial work-up of patients with newly diagnosed melanoma and for follow-up of asymptomatic patients. With regard to treatment of primary cutaneous melanoma, recommendations for surgical margins and the concepts of staged excision (including Mohs micrographic surgery) and nonsurgical treatments for melanoma in situ, lentigo maligna type (including topical imiquimod and radiation therapy), are updated. The role of sentinel lymph node biopsy as a staging technique for cutaneous melanoma is described, with recommendations for its use in clinical practice. Finally, current data regarding pregnancy and melanoma, genetic testing for familial melanoma, and management of dermatologic toxicities related to novel targeted agents and immunotherapies for patients with advanced disease are summarized.
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Melanoma/terapia , Neoplasias Cutáneas/terapia , HumanosRESUMEN
BACKGROUND: Standardized definitions and methods of surveillance for local recurrence of nonmelanoma skin cancer are critical in determining cure rates attributed to treatment modalities. OBJECTIVE: We sought to offer a standard definition of local recurrence after surgical treatment of nonmelanoma skin cancer and to propose an acceptable surveillance period and tracking methods. METHODS: A literature search was performed for background definitions of local recurrence and tracking methods. The American College of Mohs Surgery (ACMS) Registry and Outcomes Committee then conducted a modified Delphi process to arrive at consensus definitions. RESULTS: We define local recurrence as a tumor with comparable histology, with contiguity to the surgical scar after treatment, and that arises within the area of the previously treated tumor. LIMITATIONS: This project reports the results of a modified Delphi method process involving members of the ACMS. The model described may not be useful for nonexcision type treatments such as topical chemotherapy, electrodessication and curettage, or radiation treatment. CONCLUSIONS: Previous definitions of recurrence and surveillance methods after surgical treatment of nonmelanoma skin cancer are variable and nonstandard. We describe consensus standards for defining and tracking recurrence that should allow for consistent scientific evaluation and development of performance data in skin cancer outcomes registries.
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Carcinoma Basocelular/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Cirugía de Mohs , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias Cutáneas/diagnóstico , Algoritmos , Carcinoma Basocelular/patología , Carcinoma Basocelular/cirugía , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/cirugía , Cicatriz/patología , Consenso , Técnica Delphi , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Márgenes de Escisión , Modelos Teóricos , Metástasis de la Neoplasia , Neoplasias Primarias Secundarias/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Diseño de Software , Resultado del TratamientoRESUMEN
BACKGROUND: In recent years, increasing emphasis has been placed on value-based health care delivery. Dermatology must develop performance measures to judge the quality of services provided. The implementation of a national complication registry is one such method of tracking surgical outcomes and monitoring the safety of the specialty. OBJECTIVE: The purpose of this study was to define critical outcome measures to be included in the complications registry of the American College of Mohs Surgery (ACMS). METHODS: A Delphi process was used to reach consensus on the complications to be recorded. RESULTS: Four major and one minor complications were selected: death, bleeding requiring additional intervention, functional loss attributable to surgery, hospitalization for an operative complication, and surgical site infection. LIMITATIONS: This article addresses only one aspect of registry development: identifying and defining surgical complications. CONCLUSION: The ACMS Registry aims to gather data to monitor the safety and value of dermatologic surgery. Determining and defining the outcomes to be included in the registry is an important foundation toward this endeavor.
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Cirugía de Mohs/efectos adversos , Sistema de Registros , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Infección de la Herida Quirúrgica/diagnóstico , Técnica Delphi , Femenino , Estudios de Seguimiento , Humanos , Masculino , Cirugía de Mohs/métodos , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/epidemiología , Prevalencia , Medición de Riesgo , Índice de Severidad de la Enfermedad , Sociedades Médicas , Infección de la Herida Quirúrgica/epidemiología , Infección de la Herida Quirúrgica/terapia , Tasa de Supervivencia , Resultado del Tratamiento , Estados UnidosRESUMEN
Syphilis is a well-known sexually transmitted infection infamous for its protean cutaneous manifestations. Over the last decade, the rate of infection in the USA has risen, particularly among human immunodeficiency virus (HIV)-infected individuals and certain ethnic groups. Although the primary chancre developing at the site of inoculation usually has typical and well-characterized features, cutaneous manifestations of secondary syphilis span a wide spectrum and mimic those of other dermatoses. This may be particularly evident in patients with HIV. Such deviations from the expected typical papulosquamous eruption may present a diagnostic challenge and delay diagnosis and therapy. Given the increasing incidence of syphilis among the immunosuppressed patient population, recognition of atypical cutaneous manifestations is critical for adequate management. We review a range of cutaneous manifestations of secondary syphilis and the skin diseases it may mimic.
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Sífilis Cutánea/microbiología , Sífilis/complicaciones , Sífilis/diagnóstico , Diagnóstico Diferencial , Humanos , Sífilis/patología , Sífilis Cutánea/patologíaRESUMEN
Papillon-Lefèvre syndrome (PLS) is a rare inherited palmoplantar keratoderma (PPK) that is associated with progressive gingivitis and recurrent pyodermas. We present a case exhibiting classic features of this autosomal-recessive condition and review the current understanding of its pathophysiology, diagnosis, and treatment. Additionally, a review of pertinent transgredient PPKs is undertaken, with key and distinguishing features of each syndrome highlighted.
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Gingivitis/etiología , Enfermedad de Papillon-Lefevre/fisiopatología , Piodermia/etiología , Adulto , Catepsina C/genética , Progresión de la Enfermedad , Femenino , Gingivitis/tratamiento farmacológico , Gingivitis/patología , Humanos , Mutación , Enfermedad de Papillon-Lefevre/tratamiento farmacológico , Enfermedad de Papillon-Lefevre/genética , Piodermia/patología , RecurrenciaRESUMEN
Rates of primary and secondary syphilis have increased in the past decade, warranting renewed attention to the diagnosis and treatment of this disease. Men who have sex with men are particularly affected; however, increases in infection rates have also been noted in women, as well as in all age groups and ethnicities. Physicians need to vigilantly screen high-risk patients. The concurrent rise in congenital syphilis also requires special attention and reemphasizes the need for continued early prenatal care and syphilis screening for all pregnant women. Syphilis infection in patients coinfected with human immunodeficiency virus has also become more common. New experimental diagnostic approaches, including using the B cell chemoattractant chemokine (CXC motif) ligand 13 as a cerebrospinal fluid marker, may help identify suspected neurosyphilis cases. Additionally, point-of-care immunochromatographic strip testing has been suggested for screening high-risk populations in developing countries. Nontreponemal screening tests followed by treponemal confirmatory tests continue to be standard diagnostics; however, interpreting false-negative and false-positive test results, and identifying serofast reactions, can be challenging. Although doxycycline, tetracycline, ceftriaxone, and azithromycin have been used to successfully treat syphilis, penicillin remains the drug of choice in all stages of infection and is the therapy recommended by the Centers for Disease Control and Prevention. Close follow-up is necessary to ensure treatment success.