RESUMEN
Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer. While many treatments exist, our understanding of its genomic progression, especially from the epidermis to the deep dermis, remains limited. This study aims to identify genetic mutations associated with the progression of cSCC into the deep dermis, providing insights into its aggressive behavior and high-risk features. We performed high-depth whole-exome sequencing on 12 cSCC tissues, along with paired normal tissues from six patients, using microdissection techniques. The mutational analysis focused on identifying alterations enriched during cSCC progression. Gene Ontology enrichment analysis, immunohistochemical assays, and external single-cell RNA data were utilized for validation. A total of 8863 non-synonymous somatic mutations were identified in 4092 genes across the superficial and deep portions of cSCCs. Analysis of deep portion mutations revealed a significant correlation with gene ontology biological processes, particularly cell junction organization, and cell-cell adhesion. Clonal mutations in these processes were more prevalent in the deep portions, indicating their impact on the cSCC mutation landscape. Genetic evolution analysis identified 29 causal genes associated with dermal invasion in cSCC. We highlight somatic mutations in cSCC, revealing heterogeneity between superficial and deep regions. Altered genes in cell junction organization and cell-cell adhesion emerged as pivotal in dermal invasion. We identified 29 causal genes primarily in deep tumor regions. Our findings emphasize analyzing multiple tumor regions to capture varied mutational landscapes. These insights advance our understanding of cSCC progression, emphasizing genetic and cellular changes during tumor evolution.
Asunto(s)
Carcinoma de Células Escamosas , Progresión de la Enfermedad , Secuenciación del Exoma , Mutación , Invasividad Neoplásica , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patología , Secuenciación del Exoma/métodos , Invasividad Neoplásica/genética , Masculino , Femenino , Anciano , Persona de Mediana Edad , Anciano de 80 o más Años , Genómica/métodos , Análisis Mutacional de ADNRESUMEN
BACKGROUND: Alopecia, a benign dermatologic condition affecting both genders, particularly harms female patients due to psychosocial effects. Female pattern hair loss (FPHL), the primary cause of hair loss in women, lacks sufficient Korean epidemiological studies examining its psychosocial aspects. OBJECTIVE: This study aimed to explore FPHL's psychosocial impacts, including quality of life (QoL), depression, anxiety, medical consumption, and hair loss factors in Korean women. METHODS: A total of 202 patients with FPHL were interviewed using a validated questionnaire to assess the QoL, psychological impact, and pattern of medical consumption. The severity of hair loss was evaluated using the "basic and specific (BASP) classification" by dermatologists. The Hair-Specific Skindex-29 (HSS29) was used to assess the QoL and Beck depression inventory (BDI), Beck anxiety inventory (BAI) to evaluate psychological aspects, and medical expenses and the number of clinic visits to determine medical consumption. RESULTS: The global HSS29 score of FPHL was 40.97±18.92, indicating a notable impact on QoL. The mean BDI and BAI scores were 14.47 and 10.06, respectively. In multivariable regression analysis, HSS29, BDI, and BAI scores were most affected by the severity of hair loss (p<0.001). CONCLUSION: FPHL damages the psychosocial aspects of patients, such as QoL, depression, and medical consumption, according to the severity of hair loss.
RESUMEN
Primary cutaneous malignancies are among the most commonly diagnosed types of cancer worldwide. We aimed to examine the incidence and 5-year survival rates of all types of primary cutaneous malignancies in the Korean population. Data from the Korean Nationwide Cancer Registry from 1999 to 2019 were analyzed. The crude incidence rates, age-standardized incidence rates, and 5-year relative survival rates of each type of skin cancer were calculated. A total of 89 965 patients were diagnosed with primary cutaneous malignancies, which was a 7-fold increase from 1999 to 2019. The age-standardized incidence rates increased 3.4-fold in basal cell carcinoma (3.7/100 000 person-years), 2.0-fold in squamous cell carcinoma (1.6/100 000 person-years), 12.0-fold in Bowen disease (1.2/100 000 person-years), and 1.8-fold in malignant melanoma (0.7/10 000 person-years) in 2019. Average annual percentage changes in age-standardized incidence rates were statistically significant in basal cell carcinoma (15.8%), Bowen disease (5.8%), squamous cell carcinoma (5.1%), malignant melanoma (1.2%), melanoma in situ (1.1%), dermatofibrosarcoma protuberans (1.2%), mycosis fungoides (0.5%), primary cutaneous CD30+ T-cell proliferations (0.5%), adnexal and skin appendage carcinoma (0.4%), extramammary Paget's disease (0.2%), and Merkel cell carcinoma (0.2%). The 5-year relative survival rates were the highest in basal cell carcinoma (103.3%), followed by dermatofibrosarcoma protuberans (99.7%) and mycosis fungoides (96.6%), and lowest in angiosarcoma (24.7%). The 5-year relative survival rates steadily increased in extramammary Paget's disease (23.6%), cutaneous B-cell lymphoma (21.3%), mycosis fungoides (20.2%), extranodal NK/T-cell lymphoma, nasal type (18.1%), and malignant melanoma (16.1%) from 1996-2000 to 2015-2019. Most primary cutaneous malignancies have increased in incidence and survival rates in the Korean population, but to varying extents depending on the type of skin cancer.
Asunto(s)
Enfermedad de Bowen , Carcinoma Basocelular , Carcinoma de Células Escamosas , Dermatofibrosarcoma , Melanoma , Micosis Fungoide , Enfermedad de Paget Extramamaria , Neoplasias Cutáneas , Humanos , Preescolar , Melanoma/epidemiología , Incidencia , Tasa de Supervivencia , Neoplasias Cutáneas/diagnóstico , Carcinoma Basocelular/epidemiología , Micosis Fungoide/diagnóstico , Carcinoma de Células Escamosas/epidemiología , República de Corea/epidemiologíaRESUMEN
Salmonella enterica serovar Typhimurium (S. Typhimurium) is a globally recognized foodborne pathogen that affects both animals and humans. Endoribonucleases mediate RNA processing and degradation in the adaptation of bacteria to environmental changes and have been linked to the pathogenicity of S. Typhimurium. Not much is known about the specific regulatory mechanisms of these enzymes in S. Typhimurium, particularly in the context of environmental adaptation. Thus, this study carried out a comparative transcriptomic analysis of wild-type S. Typhimurium SL1344 and its mutant (∆rnc), which lacks the rnc gene encoding RNase III, thereby elucidating the detailed regulatory characteristics that can be attributed to the rnc gene. Global gene expression analysis revealed that the ∆rnc strain exhibited 410 upregulated and 301 downregulated genes (fold-change > 1.5 and p < 0.05), as compared to the wild-type strain. Subsequent bioinformatics analysis indicated that these differentially expressed genes are involved in various physiological functions, in both the wild-type and ∆rnc strains. This study provides evidence for the critical role of RNase III as a general positive regulator of flagellar-associated genes and its involvement in the pathogenicity of S. Typhimurium.
Asunto(s)
Ribonucleasa III , Salmonella typhimurium , Humanos , Animales , Ribonucleasa III/genética , Ribonucleasa III/metabolismo , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Perfilación de la Expresión Génica , Transcriptoma , Regulación Bacteriana de la Expresión GénicaRESUMEN
PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag. A 2-month-old girl presented with infantile hemangioma on her perineum and genitalia with imperforate anus, rectovaginal fistula and perineal skin tag at birth. Under the impression of PELVIS syndrome, consequential spinal sonography was conducted and revealed an intrasacral meningocele without clinical neurologic deficit. The anorectal malformation was surgically corrected, she was taking oral propranolol for the cutaneous lesion, and she showed improvement and no complications.
RESUMEN
BACKGROUND: High-intensity focused ultrasound (HIFU) and radiofrequency (RF) are non-invasive modalities for skin rejuvenation, but their combined effects have not been evaluated. OBJECTIVE: We evaluated and compared the efficacy of HIFU alone and combined HIFU and bipolar RF using a newly designed probe. METHODS: Twenty-two Korean adults with facial wrinkles and aging underwent treatment on both sides of their face: HIFU-only on the left and HIFU combined with RF on the right. Skin parameters were measured at different time points to evaluate the improvement in skin rejuvenation. RESULTS: HIFU treatment significantly improved skin parameters, including pore volume and number, skin elasticity, depth of eye wrinkles, degree of sagging in the eye area, nasolabial folds and cheeks, volume of the jawline, skin density, and permittivity. Furthermore, combining bipolar RF with HIFU treatment enhanced efficacy in reducing pore number, improving skin elasticity, diminishing eye wrinkle depth, and increasing skin moisturization. These findings indicate that bipolar RF can synergically improve skin rejuvenation by providing a thermal effect to the upper papillary dermis, which is more superficial than the target area of HIFU. CONCLUSION: Combining HIFU with bipolar RF synergistically improves skin rejuvenation, including pore reduction, periorbital wrinkle improvement, skin elasticity, and skin moisturization.
Asunto(s)
Rejuvenecimiento , Piel , Adulto , Humanos , Piel/diagnóstico por imagen , Ultrasonografía , Envejecimiento , Surco NasolabialRESUMEN
In obesity, CD11c+ innate immune cells are recruited to adipose tissue and create an inflammatory state that causes both insulin and catecholamine resistance. We found that ablation of Gnas, the gene that encodes Gαs, in CD11c expressing cells protects mice from obesity, glucose intolerance, and insulin resistance. Transplantation studies showed that the lean phenotype was conferred by bone marrow-derived cells and did not require adaptive immunity. Loss of cAMP signaling was associated with increased adipose tissue norepinephrine and cAMP signaling, and prevention of catecholamine resistance. The adipose tissue had reduced expression of catecholamine transport and degradation enzymes, suggesting that the elevated norepinephrine resulted from decreased catabolism. Collectively, our results identified an important role for cAMP signaling in CD11c+ innate immune cells in whole-body metabolism by controlling norepinephrine levels in white adipose tissue, modulating catecholamine-induced lipolysis and increasing thermogenesis, which, together, created a lean phenotype. ARTICLE HIGHLIGHTS: We undertook this study to understand how immune cells communicate with adipocytes, specifically, whether cAMP signaling in the immune cell and the adipocyte are connected. We identified a reciprocal interaction between CD11c+ innate immune cells and adipocytes in which high cAMP signaling in the immune cell compartment induces low cAMP signaling in adipocytes and vice versa. This interaction regulates lipolysis in adipocytes and inflammation in immune cells, resulting in either a lean, obesity-resistant, and insulin-sensitive phenotype, or an obese, insulin-resistant phenotype.
Asunto(s)
Dieta Alta en Grasa , Resistencia a la Insulina , Obesidad , Animales , Ratones , Tejido Adiposo Blanco/metabolismo , Catecolaminas/metabolismo , Dieta Alta en Grasa/efectos adversos , Insulina/metabolismo , Resistencia a la Insulina/fisiología , Ratones Endogámicos C57BL , Norepinefrina/metabolismo , Obesidad/etiología , Obesidad/metabolismoRESUMEN
BACKGROUND: COVID-19 is a serious respiratory disease, and wearing masks has become essential in daily life. Nevertheless, the number of people complaining of skin problems caused by wearing masks is increasing. Therefore, we investigated the characteristics of changes in sensitive skin caused by wearing a mask. MATERIALS AND METHODS: Twenty healthy Korean women with sensitive skin participated in this study. To determine any skin-related changes caused by mask-wearing, we evaluated redness, hydration, transepidermal water loss (TEWL), and moisture at 2.5 mm below the surface before and 4 h after wearing a Korea Filter 94 mask. In addition, we tested whether applying a moisturizer for 30 min after mask removal could reverse any mask-induced changes. RESULTS: Skin redness and TEWL were significantly increased at 4 h after wearing a mask (p < 0.05), otherwise skin hydration and the 2.5 mm moisture were significantly decreased (p < 0.05). After applying the moisturizer, skin redness and TEWL were significantly decreased compared to their values 4 h after wearing masks (p < 0.05), whereas skin hydration and the 2.5 mm moisture were significantly increased (p < 0.05). Moreover, after applying the moisturizer, skin redness and TEWL were significantly reduced compared to the pre-masking baseline (p < 0.05), whereas skin hydration was significantly increased (p < 0.05); the 2.5 mm moisture showed no significant change. CONCLUSION: We observed that wearing masks causes physiological changes in sensitive skin, whereas applying a moisturizer after removing the mask improved skin conditions.
Asunto(s)
COVID-19 , Máscaras , Eritema/etiología , Femenino , Humanos , Máscaras/efectos adversos , Piel , AguaRESUMEN
Management of alopecia areata (AA) is often challenging especially when patients have AA lesion refractory to conventional treatments such as corticosteroids, contact immunotherapy, and systemic therapy. Reports indicate adipocyte-derived stem cell conditioned media (ASC-CM) can activate hair growth and micro-injury using fractional laser or microneedling can also induce wound healing and hair regeneration, which suggests ASC-CM combined with fractional laser or microneedling might provide alternative therapeutic option for a refractory patch of AA. This study aimed to evaluate the clinical efficacy and safety of ASC-CM combined with 10,600 nm carbon dioxide fractional laser or microneedling for the treatment of refractory patch of AA. This retrospective study was based on evaluations of 14 patients with a refractory patch of AA treated with ASC-CM, combined with a 10,600 nm carbon dioxide fractional laser, or microneedling from March 2017 to August 2020. The efficacy of treatment was assessed by extents of hair regrowth percentages of involved areas. Of the 14 enrolled patients, 9 (64.3%) showed > 50% hair regrowth and 6 patients (42.9%) showed complete recovery. In the responder group (n = 9), mean period to achieve > 50% hair regrowth was 11.3 weeks (range 8-16 weeks). In the non-responder group (n = 5), 4 patients (28.6%) showed < 25% of hair regrowth and 1 patient show slight hair regrowth (7.1%) after 3 months of treatment. This study showed ASC-CM combined with 10,600 nm carbon dioxide fractional laser or microneedling may offer effective and safe treatment options for a refractory patch of AA.
Asunto(s)
Alopecia Areata , Adipocitos , Alopecia/terapia , Alopecia Areata/tratamiento farmacológico , Dióxido de Carbono/uso terapéutico , Medios de Cultivo Condicionados , Humanos , Estudios Retrospectivos , Células Madre , Resultado del TratamientoRESUMEN
Atopic dermatitis is a chronic and relapsing inflammatory skin disease that is treated with immunosuppressants. However, long-term use of immunosuppressants may cause toxicity and severe side-effects. To confirm the long-term efficacy and safety of clonal mesenchymal stem cell therapy, we performed investigator-initiated clinical trials and long-term observation in five adult patients with moderate to severe atopic dermatitis that was refractory to conventional treatments. The clinical response assessment values such as Eczema Area and Severity Index (EASI) improved significantly at 16 weeks, and 80% (4/5) of the patients achieved EASI-50 after one or two treatment cycles. Patients were observed for long-term efficacy and safety for an average of 38 weeks (range, 16-86) and showed no serious side-effects. Among the cytokines tested, CCL-17, interleukin (IL)-13, and IL-22 significantly decreased at the end-point of the five participants, two patients who maintained good clinical response over 84 weeks showed increased IL-17 cytokine levels in the blood.
Asunto(s)
Dermatitis Atópica , Células Madre Mesenquimatosas , Adulto , Médula Ósea , Dermatitis Atópica/tratamiento farmacológico , Método Doble Ciego , Humanos , Inyecciones Intravenosas , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
BACKGROUND: With the rapid spread of COVID-19, the makeup trend in the cosmetics market is changing as mask-wearing has become a common practice. This study was conducted to establish an objective and reliable method for analyzing the transfer of colored cosmetics onto face masks. METHODS: A total of 24 women participated in this test. The participants were requested to wear Korean Filter 94 masks after having applied colored cosmetics on their faces and lips. VISIA-CR was used to photograph the face, and a camera was used to photograph the mask, which had smeared the cosmetics. Each image was analyzed using the Image-pro® 10 image analysis software. RESULTS: Immediately after applying the cosmetics, the intensity of the face decreased and the redness of the lips increased when compared with the results 30 minutes after washing the face. After wearing a mask, the intensity increased and the redness decreased when compared with immediately after applying the cosmetics. The area before and after the colored cosmetics smeared onto the mask was increased. CONCLUSION: It is expected that this study could be used as a reference for further experiments on analysis of methods for preventing mask stains.
Asunto(s)
COVID-19 , Cosméticos , Colorantes , Femenino , Humanos , Máscaras , SARS-CoV-2RESUMEN
BACKGROUND: The spread of COVID-19 has made mask wear essential. Expecting that long-term mask wear would change the characteristics of skin, this study investigated changes in skin wrinkles and pores caused by long-term mask wear and whether or not use of moisturizers has an effect on any changes. MATERIALS AND METHODS: The study participants were 20 women who were instructed to wear a mask for at least 6 hours a day for 4 weeks. Measurements of skin wrinkles and pores were obtained before and after the 4 weeks of mask wear. The effects of application of a moisturizer were assessed by applying moisturizer within the mask-wearing area. They completed a questionnaire about skin changes at the end of the study period. RESULTS: After wearing the mask for 4 weeks, there was a significant increase in the skin wrinkles and pores; both variables decreased significantly in skin areas where a moisturizer had been applied. The results of the questionnaire-based survey indicated the study participants considered that long-term wearing of a mask had affected their skin. CONCLUSION: Wearing a mask for extended periods increases skin wrinkles and pores and using a moisturizer when wearing the mask helps to reduce this problem.
Asunto(s)
COVID-19 , Máscaras , Femenino , Humanos , SARS-CoV-2 , Piel , Encuestas y CuestionariosRESUMEN
Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory dermatosis of the anogenital area, and approximately 15% to 20% of patients with LSA have extragenital lesions. Here, we report the case of an 18-year-old Korean man presenting with multiple asymptomatic punctated hypopigmented atrophic macules on the dorsa of both feet. Dermoscopic examination revealed hypopigmented atrophic macules with several central keratotic plugs. The histopathologic findings indicated LSA but were confined to the acrosyringium. Based on the clinical and histopathological findings, the patient was diagnosed with an acrosyringeal variant of extragenital LSA. The patient in this case showed a unique histopathological finding in which the typical features of LSA were confined to the acrosyringium, as well as an unusual clinical presentation of non-coalescing atrophic punctate macules on the dorsum of the feet.
Asunto(s)
Enfermedades del Pie/patología , Liquen Escleroso y Atrófico/patología , Adolescente , Humanos , MasculinoRESUMEN
Female pattern hair loss affects the central scalp, sparing the frontal hairline. The temporal area can also be affected by hair loss. We investigated the degree of temporal hair loss and correlation of other sites of scalp hair loss in Korean female pattern hair loss patients. A total of 109 women with female pattern hair loss were enrolled in this retrospective analysis. We measured hair density and thickness in five scalp sites including the frontal, vertex, occipital and bilateral temporal areas by phototrichogram. Frontal and vertex area hair loss were classified according to the Basic and Specific (BASP) classification, and temporal scalp and occiput areas were also assessed. Eighty-nine patients showed temporal hair loss. The mean of the hair density was lowest in the temporal area among all scalp areas. Total and thick hair densities of the frontal scalp were correlated with those of the vertex, temporal scalp and occiput in descending order, and hair thickness of the frontal scalp was more related with that of the temporal scalp than the vertex. In this study, temporal involvement is evident in female pattern hair loss. We suggest that temporal involvement should be added to pattern hair loss classification, especially BASP classification.