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2.
Sci Data ; 8(1): 34, 2021 01 28.
Artigo em Inglês | MEDLINE | ID: mdl-33510154

RESUMO

Prior skin image datasets have not addressed patient-level information obtained from multiple skin lesions from the same patient. Though artificial intelligence classification algorithms have achieved expert-level performance in controlled studies examining single images, in practice dermatologists base their judgment holistically from multiple lesions on the same patient. The 2020 SIIM-ISIC Melanoma Classification challenge dataset described herein was constructed to address this discrepancy between prior challenges and clinical practice, providing for each image in the dataset an identifier allowing lesions from the same patient to be mapped to one another. This patient-level contextual information is frequently used by clinicians to diagnose melanoma and is especially useful in ruling out false positives in patients with many atypical nevi. The dataset represents 2,056 patients (20.8% with at least one melanoma, 79.2% with zero melanomas) from three continents with an average of 16 lesions per patient, consisting of 33,126 dermoscopic images and 584 (1.8%) histopathologically confirmed melanomas compared with benign melanoma mimickers.


Assuntos
Melanoma , Neoplasias Cutâneas , Inteligência Artificial , Humanos , Melanoma/diagnóstico por imagem , Melanoma/patologia , Melanoma/fisiopatologia , Metadados , Pele/patologia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/fisiopatologia
3.
Anticancer Res ; 40(11): 6563-6570, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33109598

RESUMO

BACKGROUND/AIM: In this study, we investigated the locations and surgical complications of schwannomas. PATIENTS AND METHODS: Data of 130 patients with schwannomas were retrospectively reviewed. Pre- and post-operative neurological symptoms, tumor locations, and nerves of origin (sensory, motor, or mixed) were reviewed. RESULTS: Before surgery, 69 patients had Tinel-like signs, 56 patients had pain, 32 patients had numbness, four patients had motor deficits. After surgery, 20 patients had developed a new neurological deficit; 11 patients had motor deficits, ten patients had sensory deficits, and one patient had both motor and sensory deficits. Most schwannomas occurred in mixed nerves, including the median nerve in 17 patients and tibial nerve in 13 patients. CONCLUSION: The most common site of schwannoma was the median nerve. Although the nerve of origin of the schwannoma could be identified in only 26.0% of cases, the data suggest that schwannomas occur in both sensory and motor nerves.


Assuntos
Nervo Mediano/cirurgia , Neurilemoma/cirurgia , Neoplasias do Sistema Nervoso Periférico/cirurgia , Neoplasias Cutâneas/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Neurilemoma/complicações , Neurilemoma/tratamento farmacológico , Neurilemoma/fisiopatologia , Neoplasias do Sistema Nervoso Periférico/fisiopatologia , Período Pós-Operatório , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/fisiopatologia , Resultado do Tratamento , Adulto Jovem
4.
J Drugs Dermatol ; 19(1): 89-91, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-32023015

RESUMO

INTRODUCTION: Lymphomatoid papulosis (LyP) is a CD30+ T-cell lymphoproliferative disorder (LPD) presenting as a recurrent eruption of papules and nodules which resolve spontaneously. CD30+ LPD prevalence in African American (AA)/Black patients is lower compared to White patients. CD30+ LPD has been recently reported to have worse outcomes in AA patients compared to White patients. METHODS: A retrospective chart review identified eight AA patients with LyP. We describe our experience with these eight patients and review the literature on similar cases. RESULTS: In half of the eight included patients, lesions occurred 1-4 years before they were diagnosed. In six patients (75%), resolution of the lesions resulted in hyperpigmented macules and scars. Five patients (63%) had also mycosis fungoides. Most of the patients who were followed (4/7, 57%) did not have complete resolution at their last visit, despite different treatment approaches. Discussion: Our results highlight that although LyP has an indolent course in AA/Black patients, residual hyperpigmentation and scars frequently occur, highlighting the need for better treatments of this lymphoproliferative disorder in this specific population. J Drugs Dermatol. 2020;19(1):89-91. doi:10.36849/JDD.2020.4602


Assuntos
Afro-Americanos , Papulose Linfomatoide/fisiopatologia , Neoplasias Cutâneas/fisiopatologia , Adulto , Idoso , Cicatriz/epidemiologia , Cicatriz/etiologia , Feminino , Humanos , Hiperpigmentação/epidemiologia , Hiperpigmentação/etiologia , Papulose Linfomatoide/terapia , Masculino , Pessoa de Meia-Idade , Micose Fungoide/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento
5.
Sci Rep ; 10(1): 2012, 2020 02 06.
Artigo em Inglês | MEDLINE | ID: mdl-32029836

RESUMO

Shift work with circadian disruption has been considered as a carcinogenic risk factor for skin cancer. The few prior studies that investigated the association between shift work and skin cancer have inconclusive results. Our main objective was to evaluate the associations between shift work and the risks of different types of skin cancer. We systematically searched PubMed, Web of Science, Cochrane Library, EMBASE and Science Direct until October 2018 for studies that included a relationship between shift work and skin cancer. Our search yielded 193 articles and 9 studies met the criteria for our review. The included studies involved 3,579,147 participants and 17,308 skin cancer cases. Overall, ever shift work, was associated with increased risk of melanoma (RR = 1.10, 95% CI = 1.05-1.16) and a significant decrease in the risk of BCC (RR = 0.90, 95% CI = 0.88-0.93). No association between shift work and the risk of SCC was detected. Interestingly, our dose response analysis demonstrated that the risk of melanoma cumulatively increases by 2% for every year of shift work (RR = 1.02; 95% CI = 1.00-1.03). In conclusion, shift work is associated with increased risk of melanoma and deceased risk of BCC. Further studies are needed to confirm our findings and to elucidate the related potential biological mechanisms.


Assuntos
Carcinoma Basocelular/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Melanoma/epidemiologia , Jornada de Trabalho em Turnos/efeitos adversos , Neoplasias Cutâneas/epidemiologia , Carcinoma Basocelular/fisiopatologia , Carcinoma de Células Escamosas/fisiopatologia , Ritmo Circadiano/fisiologia , Humanos , Melanoma/fisiopatologia , Fatores de Proteção , Fatores de Risco , Neoplasias Cutâneas/fisiopatologia , Tolerância ao Trabalho Programado/fisiologia
6.
Indian J Pathol Microbiol ; 63(Supplement): S7-S17, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32108620

RESUMO

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant syndrome wherein affected individuals are at risk for the development of cutaneous leiomyomas, early-onset multiple uterine leiomyomas, and an aggressive subtype of renal cell cancer. HLRCC is caused by germline mutations in the fumarate hydratase (FH) gene, which inactivates the enzyme and alters the function of the tricarboxylic acid/Krebs cycle. This article reviews the hitherto described morphologic features of HLRCC-associated renal cell carcinoma (RCC) and outlines the differential diagnosis and ancillary use of immunohistochemistry and molecular diagnostics for these tumors. The morphologic spectrum of HLRCC-associated RCC is wide and histologic features, including tumor cells with prominent nucleoli, perinucleolar halos, and multiple architectural patterns within the same tumor, which are suggestive of this diagnosis. FH immunohistochemistry in conjunction with genetic counseling and germline FH testing are the important parameters for detection of this entity. These kidney tumors warrant prompt treatment as even smaller sized lesions can demonstrate aggressive behavior and systemic oncologic treatment in metastatic disease should, if possible, be part of a clinical trial. Screening procedures in HLRCC families should preferably be evaluated in large cohorts.


Assuntos
Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Leiomiomatose/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Uterinas/diagnóstico , Diagnóstico Diferencial , Fumarato Hidratase/genética , Testes Genéticos , Humanos , Imuno-Histoquímica , Leiomiomatose/fisiopatologia , Síndromes Neoplásicas Hereditárias/fisiopatologia , Neoplasias Cutâneas/fisiopatologia , Neoplasias Uterinas/fisiopatologia
7.
Environ Pollut ; 260: 113919, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31995775

RESUMO

Environmental exposure to arsenic is a major public health challenge worldwide. In detailing the hallmark signs of chronic arsenic exposure, previous studies have shown that epigenetic and immune dysfunction are associated with arsenic-induced skin lesions; however, knowledge regarding interactions between the mechanisms listed above is limited. In this study, a total of 106 skin samples were collected over the past 20 years. Based on the presence or absence of high arsenic exposure, the participants were divided into arsenic exposure (72) and reference (34) groups. Additionally, the arsenic exposure group was further divided into the non-cancer group (31, including skin hyperpigmentation and hyperkeratosis) and the skin cancer group (41, including Bowen's disease, basal cell carcinoma and squamous cell carcinoma) according to a skin histopathological examination. First, the associations among miR-155, NF-AT1 with immunological dysfunction and arsenic-induced skin lesions and carcinogenesis were confirmed using these skin samples. In the arsenic-exposed group, miR-155-5p, keratin 1(Krt1), keratin 10 (Krt10), and keratin 6c (Krt6c) were significantly increased in the skin (p < 0.05), while NF-AT1, interleukin-2 (IL-2), and interferon-γ (IFN-γ) were significantly decreased (p < 0.05). Clear correlations were observed among these factors (p < 0.05). In immortalized human keratinocytes, silencing and overexpression of NF-AT1 could alter the expression and secretion of immunological dysfunction indicators (IL-2 and IFN-γ) that are induced by arsenic exposure (p < 0.05); however, miR-155-5p levels did not change significantly (p > 0.05). The miR-155-5p mimic and inhibitor could regulate the NF-AT1-mediated immunological dysfunction caused by arsenic (p < 0.05). Our study provides some limited evidence that miR-155-5p regulates the NF-AT1-mediated immunological dysfunction that is involved in the pathogenesis and carcinogenesis of arsenic. The second major finding was that Krt1 and Krt10 are markers of hyperkeratosis caused by arsenic, and Krt6c is a potential biomarker that can reflect arsenic carcinogenesis.


Assuntos
Arsênico , Carcinoma de Células Escamosas , Neoplasias Cutâneas , Arsênico/toxicidade , Carcinoma de Células Escamosas/induzido quimicamente , Carcinoma de Células Escamosas/fisiopatologia , Poluentes Ambientais/toxicidade , Humanos , Pele/efeitos dos fármacos , Neoplasias Cutâneas/induzido quimicamente , Neoplasias Cutâneas/fisiopatologia
8.
Eur J Cancer Care (Engl) ; 29(1): e13170, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31571340

RESUMO

OBJECTIVE: We aimed to compare frailty status between patients with head and neck cancer (HNC) and other solid malignancies. METHODS: Data collection was prospective, and the following were compared between cohorts at baseline: patient and tumour characteristics, Charlson Comorbidity Index (CCI), Groningen Frailty Indicator (GFI), Mini Mental State Examination (MMSE), Activities of Daily Living (ADLs), Instrumental ADLs (IADLs), Timed Up and Go (TUG) and Quality of Life (QoL). Univariate and multivariate logistic regression analyses were performed, and odds ratios (ORs) with their 95% confidence intervals (95% CIs) were estimated. RESULTS: In total, 242 patients with HNC and 180 with other oncology diagnoses were enrolled, of whom 32.6% and 21.8% were frail according to the GFI respectively. Comorbidity scores were not significantly different between the cohorts (7.4% vs. 13.1%; OR 0.54; 95% CI 0.28-1.02). In the univariate analysis, the GFI was significantly worse in the HNC cohort (OR 1.74; 95% CI 1.11-2.71). However, in the multivariate analysis, the MMSE, TUG and global QoL were significantly worse in the HNC cohort, with ORs of 20.03 (95% CI 2.44-164.31), 11.56 (95% CI 1.86-71.68) and 0.98 (95% CI 0.97-1.00) respectively. CONCLUSION: Patients with HNC appear to be frailer than patients with other solid malignancies despite comparable levels of comorbidity.


Assuntos
Fragilidade/epidemiologia , Neoplasias de Cabeça e Pescoço/epidemiologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/epidemiologia , Atividades Cotidianas , Idoso , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Neoplasias da Mama/fisiopatologia , Estudos de Casos e Controles , Neoplasias do Sistema Digestório/epidemiologia , Neoplasias do Sistema Digestório/patologia , Neoplasias do Sistema Digestório/fisiopatologia , Feminino , Fragilidade/fisiopatologia , Neoplasias dos Genitais Femininos/epidemiologia , Neoplasias dos Genitais Femininos/patologia , Neoplasias dos Genitais Femininos/fisiopatologia , Avaliação Geriátrica , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/fisiopatologia , Humanos , Neoplasias Renais/epidemiologia , Neoplasias Renais/patologia , Neoplasias Renais/fisiopatologia , Modelos Logísticos , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Análise Multivariada , Estadiamento de Neoplasias , Países Baixos/epidemiologia , Razão de Chances , Desempenho Físico Funcional , Qualidade de Vida , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/fisiopatologia , Neoplasias de Tecidos Moles/epidemiologia , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/fisiopatologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/fisiopatologia , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/fisiopatologia
10.
Clin Exp Dermatol ; 45(3): 309-317, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31556145

RESUMO

BACKGROUND: Consistent with cancer stem cell driven pattern of growth, human basal cell carcinomas (BCCs) demonstrate differentiation along hair follicle (HF) lineages. AIM: To define the pattern of differentiation and therapeutic targets that promote BCC differentiation and therefore BCC cancer stem cell exhaustion. METHODS: An alkaline phosphatase substrate kit was used to determine dermal papilla cells within the BCC stroma. Autonomous HF cycle-dependent gene expression was identified by analysis of the human homologues of a murine gene set (total 2289 genes) that is differentially expressed in hair cycle phases. The findings were validated by quantitative real-time PCR and immunofluorescence, as well as in vitro transforming growth factor (TGF)-ß2 stimulation of BCC cancer stem cell colonies. RESULTS: As in the HF, keratin expression in the inner root sheath and matrix in BCC correlated with proliferative index and was tightly regulated, despite the absence of dermal papilla cells. Cross-species microarray analysis comparing human BCC and murine synchronous HF growth cycle datasets revealed 74% concordance with telogen differentiation compared with anagen (23%, P < 0.01) and catagen (49%; P < 0.01). Incomplete anagen differentiation within BCC was characterized by reduced expression of the anagen master regulator DLX3 (-5.5-fold), and increased expression of telogen-associated genes: AEBP1 (2.2-fold), DEFB8 (35.3-fold), MMP3 (106.0-fold) and MMP12 (12.9-fold). Restoration of dermal papilla signals by in vitro addition of TGF-ß2 enhanced anagen differentiation. CONCLUSION: Our findings show that BCC cells differentiate along HF lineages and may be susceptible to exogenous HF cycle modulators.


Assuntos
Carcinoma Basocelular/patologia , Diferenciação Celular/fisiologia , Folículo Piloso/citologia , Neoplasias Cutâneas/patologia , Animais , Carcinoma Basocelular/fisiopatologia , Transformação Celular Neoplásica , Imunofluorescência , Expressão Gênica , Folículo Piloso/crescimento & desenvolvimento , Folículo Piloso/metabolismo , Humanos , Queratinas/metabolismo , Camundongos , Análise de Sequência com Séries de Oligonucleotídeos , Reação em Cadeia da Polimerase em Tempo Real , Neoplasias Cutâneas/fisiopatologia
12.
An Bras Dermatol ; 94(5): 503-520, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31777350

RESUMO

Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.


Assuntos
Albinismo/genética , Albinismo/patologia , Albinismo/complicações , Albinismo/epidemiologia , Brasil/epidemiologia , Carcinoma Basocelular/etiologia , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/patologia , Feminino , Humanos , Ceratose Actínica/etiologia , Ceratose Actínica/patologia , Masculino , Melaninas/deficiência , Prevalência , Fatores de Risco , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/fisiopatologia , Raios Ultravioleta/efeitos adversos
14.
Eur J Cancer ; 123: 155-161, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31704549

RESUMO

AIM OF STUDY: The aim of the study was to assess the impact of treatment with adjuvant vemurafenib monotherapy on health-related quality of life (HRQOL) in patients with resected stage IIC-IIIC melanoma. METHODS: The phase 3 BRIM8 study (NCT01667419) randomised patients with BRAFV600 mutation-positive resected stage IIC-IIIC melanoma to 960 mg of vemurafenib twice daily or matching placebo for 52 weeks (13 × 28-day cycles). Patients completed the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) version 3 at baseline, cycle 1 (days 1, 15 and 22), cycle 2 (days 1 and 15), day 1 of every subsequent 4-week cycle, the end-of-treatment visit and each visit during the follow-up period. RESULTS: Completion rates for the EORTC QLQ-C30 questionnaire were high (>80%). There was a mean decline in the global health status (GHS)/quality of life (QOL) score of 17.4 (±22.9) and 17.3 (±24.1) points at days 15 and 22 of cycle 1, respectively, among vemurafenib-treated patients who recovered to approximately 10 points below baseline for the remainder of the treatment period. A similar trend was observed in all functional scales except for cognitive function (<10-point change from baseline at all visits) and in the symptom scores for appetite loss, fatigue and pain. As observed for the GHS/QOL score, all scores rapidly returned to baseline after completion of planned vemurafenib treatment or treatment discontinuation. CONCLUSIONS: The schedule of HRQOL assessments allowed for an accurate and complete evaluation of the impact of acute treatment-related symptoms. Vemurafenib-treated patients experience clinically meaningful moderate worsening in some treatment- or disease-related symptoms and GHS/QOL that resolve over time.


Assuntos
Antineoplásicos/uso terapêutico , Quimioterapia Adjuvante , Procedimentos Cirúrgicos Dermatológicos , Melanoma/tratamento farmacológico , Qualidade de Vida , Neoplasias Cutâneas/tratamento farmacológico , Vemurafenib/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anorexia/fisiopatologia , Anorexia/psicologia , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , Fadiga/fisiopatologia , Fadiga/psicologia , Feminino , Humanos , Modelos Logísticos , Masculino , Melanoma/genética , Melanoma/fisiopatologia , Melanoma/psicologia , Pessoa de Meia-Idade , Dor/fisiopatologia , Dor/psicologia , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/psicologia , Adulto Jovem
16.
Pan Afr Med J ; 33: 297, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31692830

RESUMO

Usually most patients with dermatofibrosarcoma protuberans (DFSP) may present rather late when the tumor is in protuberant phase due to its rarity and indolent onset. It has a high propensity for local recurrence and destructive nature. Management of DFSP requires a biopsychosocial and Multidisplinary approach regardless of the clinical or immunohistochemical variant. Surgery is the Gold standard management of localized disease. DFSP rarely exhibits any lymphatic or hematogenous dissemination. It is because of its high recurrence rate associated with Wide Local Excision (WLE), the introduction of Mohs micrographic surgery (MMS) has really helped in reducing the rates of recurrence of DFSP. Thus, the aim of this meta-analysis and systemic review is to advocate for MMS over WLE for DFSP and other cutaneous malignancies using DFSP as a prototype. The objective of this study were to conduct a meta-analysis on comparative surgical methods used in the cure of DFSP with regards to WLE verses MMS, to evaluate the cure rates with relation to recurrence rates, offer a recommendation on the various treatment modalities based on the location of lesion, and use of adjuvant therapy in different clinical-medical setups. A comprehensive retrospective analysis search in EMBASE, Google Scholar and Medline (PubMed) for studies published from 2008 to 2018 containing the surgical management of DFSP with WLE verses MMS were reviewed. Five studies of moderate-quality evidence (level B) with a pooled patient load of 684 was analyzed and found for recurrence of DFSP after WLE and MMS to be 9.10% and 2.72% respectively after an average follow-up time for both groups of 5.32 years with a female predominance of 1.58. The trunk is the commonest site for the DFSP lesion which was at 52.80% then the upper and lower extremities zones and the head and neck zones at 31.75% and 15.45% respectively. The pooled adjusted odds ratio (OR) analysis indicated that there was a direct relationship with regards the reduced recurrence rate of DFSP in the MMS group compared to the WLE group (OR:0.31;95%; CI :0.17-0.56). Furthermore, there was significant association between the reduced recurrence rate with the MMS in DFSP patients with a statistical P-value of 0.0001 at 95% CI. The expected increased recurrence rate by zones was in WLE head and neck zone at 38.19% then trunk and extremities zone at 13.34%. In the MMS group it was at of 23.4% as compared to 16.0% in the head and neck zone. Mohs Micrographic Surgery (MMS) is more efficacious in the cure rate and recurrence reduction of DFSP and should be advocated for as first line therapy especially in high recurrence prone zones.


Assuntos
Dermatofibrossarcoma/cirurgia , Cirurgia de Mohs/métodos , Neoplasias Cutâneas/cirurgia , Dermatofibrossarcoma/patologia , Procedimentos Cirúrgicos Dermatológicos/métodos , Humanos , Recidiva Local de Neoplasia , Neoplasias Cutâneas/fisiopatologia , Resultado do Tratamento
17.
Mech Ageing Dev ; 184: 111160, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31634486

RESUMO

Skin is the largest organ of the body, and is prone to be affected by external environmental factors. Skin aging is caused by both genetic and environmental factors. Furthermore, aging skin tissue is known to create a permissive tissue microenvironment that promotes the initiation, progression and resistance of cancer cells by promoting the senescence-associated secretory phenotype (SASP). Therefore, more attention should be paid to skin aging. In this review, we highlight the common Rel proteins and two activation pathways: the canonical activation pathway and the non-canonical activation pathway. Furthermore, we summarize the role of NF-κB in skin aging. The effects of UV on the skin results from the production of ROS. Excessive free radicals activate the NF-κB signaling pathway and MAPK signaling pathway, contributing to the activation of AP-1 and NF-κB. Then it increased the level of TNF-α and the expression of MMPs, which induce the degradation of ECM and accelerated skin aging. We also summarize some reported natural antioxidants and synthetic antioxidants which are related to NF-κB signals. On the other hand, NF-κB plays a key role in SASP. Upon senescence-inducing signals, ATM and ATR block p62-dependent autophagic degradation of GATA4, contributing to NF-κB activation and SASP induction.


Assuntos
NF-kappa B/fisiologia , Envelhecimento da Pele/fisiologia , Animais , Senescência Celular , Humanos , Fenótipo , Transdução de Sinais/fisiologia , Neoplasias Cutâneas/fisiopatologia
18.
An. bras. dermatol ; 94(5): 503-520, Sept.-Oct. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1054862

RESUMO

Abstract Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.


Assuntos
Humanos , Masculino , Feminino , Albinismo/genética , Albinismo/patologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/fisiopatologia , Raios Ultravioleta/efeitos adversos , Brasil/epidemiologia , Carcinoma Basocelular/etiologia , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/patologia , Albinismo/complicações , Albinismo/epidemiologia , Prevalência , Fatores de Risco , Ceratose Actínica/etiologia , Ceratose Actínica/patologia , Melaninas/deficiência
19.
Postgrad Med ; 131(7): 445-452, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31443616

RESUMO

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.


Assuntos
Neurofibromatose 1/fisiopatologia , Equipe de Assistência ao Paciente , Esclerose Tuberosa/fisiopatologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Manchas Café com Leite/complicações , Criança , Pré-Escolar , Estudos de Coortes , Dermatologistas , Feminino , Genes da Neurofibromatose 1 , Testes Genéticos , Genética Médica , Grécia , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiências da Aprendizagem/complicações , Masculino , Mosaicismo , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/fisiopatologia , Síndromes Neurocutâneas/terapia , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Neurologistas , Neuropsicologia , Oncologistas , Oftalmologistas , Cirurgiões Ortopédicos , Ambulatório Hospitalar , Pediatras , Radiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia
20.
Anticancer Res ; 39(8): 4253-4258, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31366514

RESUMO

Different entities can be the cause of scalp neoplasia. In a phenotype with multiple cystic scalp lesions, the diagnosis must be made with particular caution because the appearance of apparently benign tumors does not necessarily correspond to the biological behaviour of the lesions. This case report describes diagnosis and therapy of a patient with multiple cystic tumors confined to the scalp. Diagnosis of benign lesions all over the scalp allowed an aesthetically pleasing surgical treatment result. Long-term follow-up control was offered to the patient because the histological diagnosis identified further small tumors of the same type as the large lesions, so further neoplasms are likely to develop.


Assuntos
Cisto Epidérmico/cirurgia , Neoplasias/cirurgia , Neoplasias Cutâneas/cirurgia , Adulto , Cisto Epidérmico/diagnóstico , Cisto Epidérmico/diagnóstico por imagem , Cisto Epidérmico/fisiopatologia , Feminino , Humanos , Neoplasias/diagnóstico , Neoplasias/diagnóstico por imagem , Neoplasias/fisiopatologia , Couro Cabeludo/diagnóstico por imagem , Couro Cabeludo/fisiopatologia , Couro Cabeludo/cirurgia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/fisiopatologia
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