RESUMO
Non-functioning pituitary adenomas (NFPAs) are benign lesions in the pituitary gland with important morbidities. In this study, based on a bioinformatics analysis to identify the genes and pathways that display significant differences between tumour tissues of NFPA patients and normal pituitary tissues, we selected lncRNAs related to cAMP and oxidative phosphorylation pathways, namely DNAH17-AS1, LINC00706 and SLC25A5-AS1. Then, we aimed to investigate by means of RT-qPCR, the expression of these lncRNAs along with two other lncRNAs, namely CADM3-AS1 and MIR7-3HG in NFPA samples compared to that in healthy tissues adjacent to the tumours. Transcripts of DNAH17-AS1, LINC00706 and MIR7-3HG were lower in NFPA samples compared with controls (Expression ratios (95% CI) = 0.43 (0.23-0.78), 0.58 (0.35-0.96) and 0.58 (0.35-0.96); p-values = 0.009, 0.025 and 0.036, respectively). AUC values of ROC curves of DNAH17-AS1, LINC00706 and MIR7-3HG were 0.62, 0.61 and 0.62, respectively. Expression of CADM3-AS1 was associated with the gender of patients in a way that it was lower in female patients (p-value = 0.04). The level of SLC25A5-AS1 was lower in subjects with disease duration lower than 1 year (p-value = 0.048). We showed dysregulation of three lncRNAs in NFPA tissues and potentiates these lncRNAs as important regulators of pathogenic events in these tumours.
Assuntos
Neoplasias Hipofisárias , RNA Longo não Codificante , Humanos , Feminino , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/patologia , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Fosforilação Oxidativa , Hipófise/metabolismoRESUMO
There are no published cases about bullous pyoderma gangrenosum induced by leucovorin, fluorouracil and oxaliplatin (FOLFOX) chemotherapy. With the increasing incidence of gastric and colorectal cancers and the increased usage of targeted therapies, some cutaneous adverse effects may become common. An 84-year-old male presented to our clinic with multiple ulcerative plaques covered with hemorrhagic crusts on both extremities after several FOLFOX chemotherapy sessions for gastric cancer and liver metastasis. Two weeks later, multiple bullae also appeared, especially on the acral areas. The histopathology examination was compatible with acute leukocytoclastic vasculitis. The FOLFOX chemotherapy regimen is increasingly administered considering the rising incidence of gastrointestinal cancers. Hence, our understanding of its possible side effects and complications must be heightened.
Assuntos
Neoplasias Colorretais , Pioderma Gangrenoso , Idoso de 80 Anos ou mais , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Neoplasias Colorretais/tratamento farmacológico , Fluoruracila/efeitos adversos , Humanos , Leucovorina/efeitos adversos , Masculino , Oxaliplatina/efeitos adversos , Pioderma Gangrenoso/tratamento farmacológico , Pioderma Gangrenoso/etiologia , Pioderma Gangrenoso/patologia , Vasculite Leucocitoclástica CutâneaRESUMO
BACKGROUND: Histopathologic differentiation of lichen planopilaris (LPP) and discoid lupus erythematosus (DLE) as two common causes of primary cicatricial alopecias remains challenging. METHOD: We performed a histopathologic study on a case series of LPP and DLE specimens to investigate the number, distribution, and morphology of mast cells as indices for differentiation of these two entities. H&E investigation and Giemsa staining for the detection of mast cells was performed. RESULT: A total of 74 cases comprising 50 cases of LPP and 24 cases of DLE were assessed. The mean mast cell count and percentage were significantly higher in LPP group (p < 0.001). Mean degranulated mast cell count and the mean intact mast cell count were also significantly higher in LPP patients (p < 0.001). Most of the specimens, 58 (78.4%), showed both perifollicular and perivascular distribution of mast cells without significant difference between two groups. The morphology of mast cells was predominantly round-oval in 85.5%, predominantly fusiform in 13.5% with more frequent fusiform morphology in DLE group. CONCLUSION: The mast cell count detected by Giemsa staining could assist pathologists in distinguishing between LPP and DLE.
Assuntos
Líquen Plano , Lúpus Eritematoso Discoide , Alopecia/patologia , Contagem de Células , Humanos , Líquen Plano/patologia , Lúpus Eritematoso Discoide/patologia , Mastócitos/patologia , Couro Cabeludo/patologiaRESUMO
Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions of the skin and mucous membranes due to mutations in COL7A1. The repetitive wound healing processes lead to extensive cutaneous scarring. The scarring is driven by inflammatory processes, particularly the TGF-ß signaling pathways, resulting in excess synthesis and deposition of the extracellular matrix, especially collagen. There is currently no effective or specific treatment for RDEB. Losartan, an angiotensin II type 1 receptor antagonist, is an inhibitor of TGF-ß activity. Previous preclinical studies with hypomorphic Col7a1 mice recapitulating features of RDEB have suggested that losartan may improve the clinical features of RDEB. In this case series, we assessed the effects of losartan on the clinical and histopathologic features in seven patients with RDEB; three females and four males; aged 18.1 ± 9.1 years. The diagnosis was based on characteristic clinical features and the presence of biallelic loss-of-function mutations in COL7A1. Daily oral administration of losartan (0.7 mg/kg) for six weeks resulted in subjective improvement of the clinical features, as judged by the treating physicians and the patients, and the severity of the disease objectively improved based on Birmingham Epidermolysis Bullosa Severity (BEBS) score (30.1 ± 12.8 versus 23.3 ± 10.4, before and after treatment, p = 0.018), accompanied by improvement of quality of life, as determined by the EB-QoL questionnaire (24.0 ± 8.1 versus 17.7 ± 5.5, p = 0.018). Histopathology of the selected lesions revealed after treatment increased number of mast cells, and enhanced microvasculature in the mid and lower dermis. The width of collagen bundles in dermis was suggested to be decreased in four samples and changed from dense to loose in appearance. In summary, this case series reports beneficial effects of losartan on RDEB as a potentially novel treatment.
Assuntos
Epidermólise Bolhosa Distrófica , Animais , Cicatriz/patologia , Colágeno , Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/diagnóstico , Epidermólise Bolhosa Distrófica/tratamento farmacológico , Epidermólise Bolhosa Distrófica/genética , Feminino , Losartan/uso terapêutico , Masculino , Camundongos , Qualidade de Vida , Fator de Crescimento Transformador betaRESUMO
MALAT1 is a long non-coding transcript that affects immune reactions, thus being involved in the pathoaetiology of immune-related conditions. We investigated the associations between two genetic variants in MALAT1 and susceptibility to psoriasis in the Iranian population. The G allele of rs619586 has been shown to be less common among cases versus controls (odds ratios (OR; 95% confidence intervals (CI)) = 0.57 (0.36-0.9)), adjusted p = .02). This single nucleotide polymorphism has been associated with the risk of psoriasis in a dominant model (AG + GG vs. AA: OR (95% CI) = 0.56 (0.35-0.92), adjusted p = .04) as well as log-additive model (OR (95% CI) = 0.59 (0.38-0.92), adjusted p = .04). The rs3200401 was not associated with psoriasis in any of the supposed inheritance models. This study potentiates rs619586 as a risk locus for psoriasis in the Iranian population.
Assuntos
Psoríase , RNA Longo não Codificante , Estudos de Casos e Controles , Predisposição Genética para Doença , Humanos , Irã (Geográfico)/epidemiologia , Polimorfismo de Nucleotídeo Único , Psoríase/epidemiologia , Psoríase/genética , RNA Longo não Codificante/genéticaRESUMO
Recent studies have shown participation of long non-coding RNAs (lncRNAs) in the pathogenesis of psoriasis. Several mechanisms might be involved in the dysregulation of expression of lncRNAs in patients with psoriasis, among them is the presence of single nucleotide polymorphisms (SNPs) which modulate expression or function of these transcripts. In the present work, we genotyped three SNPs (rs12826786, rs1899663 and rs4759314) of the HOX Transcript Antisense RNA (HOTAIR) in 286 patients with psoriasis and 300 control subjects. The rs12826786 was associated with risk of psoriasis in dominant model (TC + TT vs. CC: OR (95% CI) = 1.59 (0.1.14-2.22), adjusted p-value = .02). In the allelic model, T allele of this SNP significantly increased the risk of psoriasis compared with the C allele (OR (95% CI) = 1.35 (1.06-1.71), adjusted p-value = .04). Other SNPs were not associated with risk of psoriasis in any inheritance model. No significant difference was found in haplotype frequencies between cases and controls. The current work shows association between a genomic variant within HOTAIR and risk of psoriasis. The clinical significance of this finding should be assessed in future studies.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Psoríase/genética , RNA Longo não Codificante/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Feminino , Genótipo , Haplótipos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Psoríase/epidemiologia , Psoríase/patologia , Fatores de Risco , Adulto JovemRESUMO
BACKGROUND: Melanoma has increased in incidence worldwide prompting investigators to search for new biomarkers for targeted immunotherapy of this disease. Placenta specific 1 (PLAC1) is a new member of cancer-testis antigens with widespread expression in many types of cancer. Here, we aimed to study for the first time the expression pattern of PLAC1 in skin cancer samples including cutaneous melanoma, basal cell carcinoma (BCC), squamous cell carcinoma (SCC) in comparison to normal skin and nevus tissues and potential therapeutic effect of anti-PLAC1 antibody in melanoma cancer cell lines in vitro. MATERIALS AND METHODS: Polyclonal and monoclonal antibodies were applied for immunohistochemical profiling of PLAC1 expression using tissue microarray. The cytotoxic action of anti-PLAC1 antibody alone or as an antibody drug conjugate (with anti-neoplastic agent SN38) was investigated in melanoma cell lines. RESULTS: We observed that 100% (39 of 39) of melanoma tissues highly expressed PLAC1 with both cytoplasmic and surface expression pattern. Investigation of PLAC1 expression in BCC (n = 110) samples showed negative results. Cancer cells in SCC samples (n = 66) showed very weak staining. Normal skin tissues and nevus samples including congenital melanocytic nevus failed to express PLAC1. Anti-PLAC1-SN38 exerted a specific pattern of cytotoxicity in a dose- and time-dependent manner in melanoma cells expressing surface PLAC1. CONCLUSIONS: Our findings re-inforce the concept of re-expression of embryonic/placental tissue antigens in cancer and highlight the possibility of melanoma targeted therapy by employing anti-PLAC1 antibodies. The data presented here should lead to the future research on targeted immunotherapy of patients with melanoma.
Assuntos
Antineoplásicos Imunológicos/farmacologia , Biomarcadores Tumorais/antagonistas & inibidores , Imunoconjugados/farmacologia , Imunoterapia , Irinotecano/farmacologia , Melanoma/tratamento farmacológico , Proteínas da Gravidez/antagonistas & inibidores , Neoplasias Cutâneas/tratamento farmacológico , Inibidores da Topoisomerase I/farmacologia , Biomarcadores Tumorais/metabolismo , Linhagem Celular Tumoral , Feminino , Humanos , Masculino , Melanoma/imunologia , Melanoma/metabolismo , Melanoma/patologia , Pessoa de Meia-Idade , Terapia de Alvo Molecular , Proteínas da Gravidez/metabolismo , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologiaRESUMO
Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic malnutrition, human immunodeficiency virus (HIV), malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and middle-aged adults. There is no sex predilection for this entity. The lesions could heal spontaneously, but usually recur and become chronic. Our patient was an 11-year-old girl suspected to have primary combined immunodeficiency complicated by chronic recurrent vegetating pustular lesions on the face and postauricular area since one year of age. The histological features of the lesions were consistent with pyoderma vegetans. This is the first case of PV beginning from early infancy in the setting of primary immunodeficiency and in an unusual location.
RESUMO
BACKGROUND: Discoid lupus erythematosus (DLE) is an autoimmune disease with multifactor etiology which develops in genetically susceptible patients. Rarely, DLE lesions can mimic other connective tissue disorders such as morphea. The growing application of soft tissue fillers is associated with increasing complications. Some substances used for soft tissue augmentation such as silicon implants may trigger lupus erythematosus diseases. CASE REPORT: Here we report a case of morphea-like discoid lupus erythematosus developed several years after polyacrylamide dermal filler (PAAG) injection for facial rejuvenation. CONCLUSION: As noninvasive procedures like dermal filler injections are increasing worldwide, physicians may consider the long-term probable side effects of these compounds.
Assuntos
Resinas Acrílicas , Preenchedores Dérmicos , Lúpus Eritematoso Discoide , Humanos , Lúpus Eritematoso Discoide/diagnóstico , Lúpus Eritematoso Discoide/induzido quimicamente , Preenchedores Dérmicos/efeitos adversos , Preenchedores Dérmicos/administração & dosagem , Feminino , Resinas Acrílicas/efeitos adversos , Resinas Acrílicas/administração & dosagem , Esclerodermia Localizada/induzido quimicamente , Esclerodermia Localizada/diagnóstico , Técnicas Cosméticas/efeitos adversos , Pessoa de Meia-IdadeRESUMO
Generalized lichen planus pigmentosus significantly improved with the daily administration of Tofacitinib at a dosage of 15 mg.
RESUMO
This study focused on a rare case of an isolated renal hydatid cyst. A 58-year-old asymptomatic woman was referred to the urologic clinic after an abdominal computed tomography (CT) scan revealed a renal cystic mass. While immunologic tests were normal, the final diagnosis was a renal hydatid cyst after radical nephrectomy of the affected kidney. We believe isolated occurrence of hydatid cysts is rare.
RESUMO
Malignant melanoma in the urethra is a rare tumor that is difficult to diagnose and treat, leading to a poor prognosis. In this paper, we present the case of a 36-year-old woman with history of invasive rectal adenocarcinoma (PT2N0Mx) who was tumor free for 5 years presented to urology outpatient with history of poor stream, dysuria, and dyspareuria. On examination, there was a huge mass in the meatus of urethra. Urethral malignant melanoma shows a high rate of local recurrence, about 60 % in 1 year. Overall survival in a series of 11 cases at 3 years was 27 %.
RESUMO
INTRODUCTION: Several vaccine-related cutaneous adverse events occurred following the widespread use of vaccines to prevent coronavirus disease 2019 (COVID-19). This case series reports 25 patients with de novo or accentuated dermatologic conditions after receiving the Sinopharm, Sputnik V, AstraZeneca, or BIV1-CovIran vaccine in Iran. METHODS AND RESULTS: Twenty-five eligible patients with a mean age of 46.80 years were investigated. The cutaneous adverse events included pityriasis rosea, zoster, viral exanthema, urticaria, bullous pemphigoid, pemphigus vulgaris, and acute generalized exanthematous pustulosis. The manifestations appeared 14.45 ± 6.98 and 20.79 ± 22.18 days following injection of the first and second doses of COVID-19 vaccines, respectively. All patients experienced new cases of cutaneous disease other than two who developed flare-ups of lichen planus and psoriasis. CONCLUSION: Several cutaneous reactions, ranging from allergic events to skin diseases, have been reported following the injection of COVID-19 vaccines. Focal injection-site reactions are the most common cutaneous adverse events; however, de-novo skin diseases and a flare-up of preexisting cutaneous disorders have also been described. Although many cases of COVID-19 vaccine-related cutaneous diseases have been published, our zoster/lichen planus and AGEP cases after vaccination are interesting. A more detailed understanding of cutaneous adverse events following COVID-19 vaccination will facilitate better diagnosis and management.
Assuntos
Pustulose Exantematosa Aguda Generalizada , Vacinas contra COVID-19 , COVID-19 , Herpes Zoster , Líquen Plano , Humanos , Pessoa de Meia-Idade , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Vacinação/efeitos adversosRESUMO
Subungual Onycholemmal Cyst (SOC) is a rare nail abnormality with different clinical presentations which can mimic different nail malignancies, such as melanoma, SCC, or glomus tumor. It is necessary for dermatologists and dermatopathologist to be aware of this pathology to make the proper diagnosis and treatment. SOC is a rare nail abnormality which affects the dermis of the nail bed. SOC has different clinical presentations, including onychodystrophy, ridging, clubbing, thickening, pigmentation, or even normal appearance. It can mimic different nail malignancies, such as melanoma, SCC, or glomus tumor. In this report, we describe a 54-year-old man with unilateral second right finger nail onychodystrophy and onycholysis for 1 year. He did not have any history of recent trauma, pain, or bleeding. It was completely resected by surgery. Nail biopsy can contribute to the early diagnosis of SOC and improvement of treatment outcomes.
RESUMO
Hereditary progressive mucinous histiocytosis (HPMH) is an extremely rare progressive non-Langerhans cell histiocytic disorder presenting with only cutaneous manifestations. Patients typically present with multiple asymptomatic dome-shaped erythematous papules, usually involving the face and upper extremities. Twenty-six cases have been reported worldwide, with no spontaneous regression. Treatment with thalidomide stopped the progression of the disease in two cases. We report a case of progressive mucinous histiocytosis in a 31-year-old female patient with a history of tuberculosis who presented papular lesions on the face that later extended to the hands. She was treated with isoniazid for tuberculosis and isotretinoin for the skin lesions; the improvement was minimal during the next two months, with new lesions appearing on both hands. Thalidomide stopped the progression of the disease. The cause and pathogenesis of HPMH are undetermined. The pathogenesis of HPMH may be similar to that of lysosomal storage disease, considering the intra-cytoplasmic phospholipid deposition in both diseases, in addition to the likelihood of a role of macrophages in triggering the disease. In our patient, tuberculosis may have contributed.
Assuntos
Histiocitose , Dermatopatias , Neoplasias Cutâneas , Feminino , Humanos , Adulto , Talidomida/uso terapêutico , Histiocitose/patologia , Neoplasias Cutâneas/patologia , Dermatopatias/patologiaRESUMO
Glioblastoma multiform (GBM) is an invasive cancer that causes high mortality in patients. Disruption of the apoptosis process is one of the main pathogenesis of the disease. Recently, LncRNAs and miRNAs have been shown to play an important role in the process of apoptosis. To follow the aim of study, 100 patients participated in the two groups of 50 individuals, including 50 GBM patients and 50 healthy individuals as the control group. Mononuclear cells were isolated from peripheral blood samples and RNA extraction was done. The expression changes of miR-17-5p, miR-20-5p, LINC01605, FAS-AS1, and Caspase 3 were examined using RT-PCR in both groups. Expression of LINC01605, miR-20-5p, and miR-17-5p increased in patients, while Caspase 3 and FAS-AS1 decreased; the difference was statistically significant between the two groups. In addition, it was found that these factors have the appropriate sensitivity and specificity as diagnostic markers. Finally, It is suggested to use the LINC01605, FAS-AS1, miR-20-5p, miR-17-5p, and Caspase 3 as apoptosis predictors in the GM patients.
Assuntos
Glioblastoma , MicroRNAs , RNA Longo não Codificante , Humanos , MicroRNAs/metabolismo , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Caspase 3/genética , Caspase 3/metabolismo , Glioblastoma/genética , Glioblastoma/metabolismo , Glioblastoma/patologia , Estudos de Casos e Controles , Linhagem Celular Tumoral , Regulação Neoplásica da Expressão Gênica , Apoptose/genética , Proliferação de Células/genéticaRESUMO
Here, we report a case of granulomatosis with polyangiitis presenting with unilateral parotid gland enlargement and later developed skin lesions on the lower extremities and abdomen. Although rare, salivary gland enlargement may be the presenting sign of Wegener's granulomatosis or other ANCA associated vasculitides.