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A 14-year-old girl presented with a facial-pigmented lesion suspicious of melanoma clinically and dermoscopically. In vivo, reflectance confocal microscopy (RCM) findings excluded melanoma by revealing typical epidermal honeycomb and cobblestone patterns. Well-defined follicular contours were seen at the dermal-epidermal junction; there were no elongated, "medusa head-like" follicular protrusions or folliculotropism, which are classical findings seen in lentigo maligna. With this report, we aim to demonstrate the significance of utilizing RCM technology in difficult to diagnose lentiginous pigmented lesions.
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PURPOSE: To assess oncological outcomes of patients receiving neoadjuvant radiochemotherapy (RCT) for soft tissue sarcoma (STS) of the extremities. METHODS: Patients who were treated with preoperative radiotherapy and concomitant chemotherapy-3 cycles of mitomycin/doxorubicin/cisplatin (MAP) or 2-4 cycles of doxorubicin/cisplatin (AP)-followed by surgery were analyzed retrospectively. Survival rates were estimated, and prognostic factors were identified. RESULTS: Between 1994 and 2017, a total of 108 patients were included. Median ages were 43 years and 51 years for patients receiving MAP and AP, respectively. The 5year local relapse-free survival (LRFS), disease-free survival (DFS), disease-specific survival (DSS), and overall survival (OS) were 94.1, 63.6, 75.3, and 71.9%, respectively. In the multivariate analysis, significant predictors were identified as follows: de novo or R1/R2 resected tumor on admission before RCT (pâ¯= 0.017; hazard ratio [HR] 0.112, 95% confidence interval [CI] 0.019-0.675) and R0 resection after RCT (pâ¯= 0.010; HR 0.121, 95% CI 0.024-0.598) for LRFS; female gender (pâ¯= 0.042; HR 0.569, 95% CI 0.330-0.979) and liposarcoma histology (pâ¯= 0.014; HR 0.436, 95% CI 0.224-0.845) for DFS; liposarcoma histology (pâ¯= 0.003; HR 0.114, 95% CI 0.027-0.478) and AP regimen (pâ¯= 0.017; HR 0.371, 95% CI 0.165-0.836) for DSS; ageâ¯≤ 45 years (pâ¯= 0.043; HR 0.537, 95% CI 0.294-0.980) and liposarcoma histology (pâ¯= 0.006; HR 0.318, 95% CI 0.141-0.716) for OS, respectively. CONCLUSION: An increased risk for local failure seems to exist for patients with relapsed tumor on admission and having positive surgical margins after neoadjuvant RCT. Intensity of chemotherapy influenced DSS but not OS, which could be due to younger patients receiving MAP.
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Lipossarcoma , Sarcoma , Neoplasias de Tecidos Moles , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Cisplatino , Recidiva Local de Neoplasia/patologia , Sarcoma/terapia , Sarcoma/patologia , Extremidades/patologia , Neoplasias de Tecidos Moles/cirurgia , Doxorrubicina , Lipossarcoma/tratamento farmacológico , Lipossarcoma/patologia , Terapia Neoadjuvante , Quimiorradioterapia , Estudos RetrospectivosRESUMO
Clinical and dermoscopic features of atypical fibroxanthoma (AFX) are mostly non-diagnostic, so other in vivo diagnostic tools may give additional clues for accurate clinical diagnosis, such as in vivo reflectance confocal microscopy (RCM). However, there has been scarce data on RCM features of AFX in the literature, in only clear cell type. Herein we present a case of epithelioid cell predominant type AFX with RCM findings.
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Dermoscopia , Neoplasias Cutâneas , Humanos , Microscopia Confocal , Neoplasias Cutâneas/diagnóstico por imagem , Diagnóstico Diferencial , Microscopia IntravitalRESUMO
PURPOSE: To define the use of human amniotic membrane transplantation (hAMT) for reconstruction of the ocular surface after ocular surface lesion excisions in pediatric population during the last decade in a tertiary eye center. METHODS: A total of 31 patients who underwent hAMT procedure because of the excision of ocular surface lesions between January 2009 and December 2021 were included in this study. The medical data were retrospectively evaluated. RESULTS: The female-to-male ratio was 14/17. The mean age of the patients was 10.1±4.1 (range, 1-18) years. Although a single hAMT was applied to most of the cases (94.4%; 34 eyes), more than one hAMT was applied to 5.6% of cases (2 eyes). The amniotic membrane degradation duration was found to be 21.5±10.8 (range, 13-50) days. CONCLUSIONS: Amniotic membrane is used as a biomaterial in various ocular surface diseases with its anti-inflammatory, antimicrobial, and wound healing properties. Although widely used, there are only a few studies reporting its clinical efficacy in the pediatric age group. It seems to be safe and effective in pediatric age group for ocular surface reconstruction after ocular surface lesion excisions.
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Âmnio , Oftalmopatias , Humanos , Masculino , Criança , Feminino , Lactente , Pré-Escolar , Adolescente , Âmnio/transplante , Estudos Retrospectivos , Cicatrização , Resultado do TratamentoRESUMO
We report multiple indurated nodular lesions on the lip, upper trunk and extremities of an 80-year-old man.
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Extremidades , Lábio , Masculino , Humanos , Idoso de 80 Anos ou maisRESUMO
ABSTRACT: Cutaneous amyloidosis (CA) is defined by the accumulation of amyloid in the dermis; it might be primary or secondary. The diagnosis is based on histopathological findings with the demonstration of amyloid deposits, confirmed by Congo red stain under the polarized light. Studies on other diagnostic markers are ongoing in the literature. The aim of this study was to demonstrate the utility of C4d staining in the recognition of amyloid in CA and using it as an alternative or substitute marker for the diagnosis. In this retrospective study, 199 skin biopsies with a clinical provisional diagnosis of CA were analyzed, the Congo red stain was performed, and, in a subgroup (n = 97) with histopathological findings probably for CA, C4d immunohistochemistry was assessed. Forty-eight cases of CA were detected. Congo red birefringence was positive in all cases, whereas in 14 cases, it was faded. In these 14 cases, the diagnosis of CA was made by means of Congo red fluorescence and Thioflavin T because the histopathological findings were highly suggestive for CA. All CA cases were positive with C4d, and in 12 of the 49 inflammatory dermatoses, C4d was positive. The interpretation of C4d immunohistochemistry can be performed more easily and rapidly than Congo red evaluation. The sensitivity and specificity of C4d were 100% and 75.5%, respectively. In our experience, C4d staining was a useful method for detecting amyloid deposits in CA. Although Congo red staining is the gold standard for amyloid detection, we propose C4d immunohistochemistry as a routine screening method or hybrid transition while further investigations are completed.
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Amiloidose Familiar/patologia , Complemento C4b/análise , Fragmentos de Peptídeos/análise , Dermatopatias Genéticas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Amiloidose Familiar/diagnóstico , Biomarcadores/análise , Corantes/uso terapêutico , Vermelho Congo/administração & dosagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Dermatopatias Genéticas/diagnósticoRESUMO
Cutaneous leishmaniasis (CL) is an intracellular parasitic infectious skin disease with a chronic self-limited course. In vivo reflectance confocal microscopy (RCM) findings in CL have been described in only two cases of CL. We report another case with RCM findings; however to our knowledge, this is the first demonstration of Leishmania amastigotes in RCM imaging. A centrally eroded reddish nodular lesion with a diameter of 12 mm was observed on the leg of a 36-years-old male with a 1-month history. On dermoscopy, a central yellowish crust, and irregularly distributed whitish opaque structures ranging in size and shape (round to polygonal) were observed. There were also irregular vessels mostly at the center and dotted/glomerular vessels at the periphery. On RCM, mild epidermal disarray with some scattered bright cells at the basal layer was observed. At the dermis, dense infiltration of polymorphic/roundish cells with heterogeneous reflectivity was seen. These large, mildly reflecting cells with fine granular structures in their cytoplasm were compatible with macrophages. Histopathology was concordant with CL. The Leishmania amastigotes seen as cytoplasmic granularity on RCM were the clue feature for the initial diagnosis.
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Leishmania/ultraestrutura , Leishmaniose Cutânea/diagnóstico , Microscopia Confocal/métodos , Dermatopatias/patologia , Adulto , Dermoscopia/métodos , Epiderme/patologia , Humanos , Leishmania/isolamento & purificação , Leishmaniose Cutânea/parasitologia , Leishmaniose Cutânea/patologia , Masculino , Dermatopatias/parasitologiaRESUMO
Dirofilariasis is a vector-borne disease that is present worldwide. This report describes a giant subconjunctival granuloma which mimics scleritis, caused by D. immitis. A 60-year-old man was referred with the complaints of irritation, redness, and swelling at the medial part of the right eye. He was living in Izmir province located in western Turkey. Slit-lamp examination showed a firm, immobile mass measuring 13.0 × 5.0 × 5.0 mm with yellowish creamy color. The mass was completely removed surgically under local anesthesia mainly for diagnosis. Histopathology revealed typical morphological features of a filarioid nematode in favor of Dirofilaria as characterized by the external smooth cuticular surface, cuticular layer, muscle layer, and intestinal tubule. Molecular study was performed using DNA isolated from paraffin-embedded tissue sections of the worm. PCR amplification and then DNA sequence analysis of cytochrome c oxidase subunit 1 (cox1) gene fragment confirmed that the worm was D. immitis. It is suggested that this may represent the first human case of D. immitis occurring in subconjunctival granuloma in Turkey. Although rare, D. immitis caused by ocular dirofilariasis in humans should be considered.
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Dirofilaria immitis , Dirofilariose , Animais , Dirofilaria immitis/isolamento & purificação , Dirofilariose/diagnóstico , Granuloma , Humanos , Masculino , Pessoa de Meia-Idade , Esclerite , TurquiaRESUMO
In vivo reflectance confocal microscopy (RCM) findings of lymphangiomas have been scarcely reported. We report a lymphangioma circumscriptum (LC) with some new observations.
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Dermoscopia , Linfangioma/patologia , Microscopia Confocal , Neoplasias Cutâneas/patologia , Adulto , Humanos , MasculinoRESUMO
Dermatofibrosarcoma protuberans is a slowly progressive, locally aggressive fibroblastic tumor which can be misdiagnosed in the early stage. Reflectance confocal microscopic features of dermatofibrosarcoma protuberans has been scarcely described in the literature. We described the dermoscopic and reflectance confocal microscopic findings of 12â¯× 15â¯cm sized tumoral lesion of 45-year-old man.
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Dermatofibrossarcoma , Neoplasias Cutâneas , Dermatofibrossarcoma/diagnóstico por imagem , Dermatofibrossarcoma/cirurgia , Humanos , Masculino , Microscopia Confocal , Pessoa de Meia-IdadeRESUMO
BACKGROUND: The BRAF-V600 mutation is the most common mutation in cutaneous melanomas and is currently considered a target mutation when planning treatment for metastatic melanoma patients. Various techniques are used to determine the mutation status. The aim of this study was to determine the BRAF-V600 mutation status in primary and metastatic foci of melanoma cases and the consistency between the results of immunohistochemical and molecular methods. METHODS: A total of 48 primary or metastatic cases were included in the study. Pyrosequencing was used as the molecular method and the VE1 antibody for immunohistochemical evaluation when determining the BRAF-V600 mutation. RESULTS: The BRAF-V600 mutation was found in 75 of the 96 tumors (78.1%) from the 48 cases. V600E and V600K were present in 60 and 10 tumors, respectively, whereas V600R and V600M were present in 2 tumors and V600G in 1 tumor. There was no mutation in 5 metastases (12.8%) of the 39 cases with a V600 mutation in the primary tumor and no mutation in the primary tumor of 2 of the 36 cases (5.6%) with the V600 mutation in the metastasis. Fifty-six tumors were immunohistochemically positive where a V600E mutation was detected with pyrosequencing. Wild-type tumors (n = 20) and tumors with non-V600E mutations (n = 15) on pyrosequencing were immunonegative with VE1. The sensitivity and specificity of immunohistochemistry were 93.3% and 97.2%, respectively. CONCLUSIONS: In conclusion, BRAF-V600 mutation inconsistencies of up to 14.5% can be seen between the primary and metastatic foci in melanoma cases. These findings should be taken into account when planning targeted therapy and deciding on treatment responsiveness/unresponsiveness. An immunohistochemical method can be used as the first step to detect a BRAF-V600 mutation but additional molecular methods should be used when immunohistochemistry results are negative.
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Biomarcadores Tumorais/genética , Análise Mutacional de DNA/métodos , Imuno-Histoquímica , Melanoma/genética , Melanoma/secundário , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Melanoma/enzimologia , Melanoma/terapia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes , Neoplasias Cutâneas/enzimologia , Neoplasias Cutâneas/terapiaRESUMO
This report describes a patient with choroidal malignant melanoma presenting as orbital cellulitis without extraocular tumor extension. It is an interventional case report with histopathologic correlation. A 68-year-old male presented with a 3-day history of painful hyperemia and swelling in the right eye. The examination showed edematous eyelids, mechanical ptosis and chemosis with conjunctival injection. B-scan ultrasonography showed a mass with medium level echogenicity that filled the vitreous cavity. Magnetic resonance imaging showed a solid choroidal mass with hemorrhagic and inflammatory changes with no obvious extraocular extension. Due to these suggestive findings of choroidal melanoma the right eye was enucleated. A spindle cell choroidal melanoma including intense pigmentation and necrosis was confirmed by histopathological examination. Although rare; choroidal melanoma may present as orbital cellulitis, particularly when the tumor is necrotic.
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Neoplasias da Coroide/patologia , Melanoma/patologia , Celulite Orbitária/diagnóstico , Idoso , Neoplasias da Coroide/diagnóstico por imagem , Exoftalmia/diagnóstico , Movimentos Oculares , Humanos , Pressão Intraocular , Imageamento por Ressonância Magnética , Masculino , Melanoma/diagnóstico por imagem , Invasividade Neoplásica , Ultrassonografia , Acuidade VisualRESUMO
Toxic epidermal necrolysis (TEN) is a disease which is characterized by fever and desquamation of the skin and mucosal membranes. It is usually related with drugs, especially aromatic anticonvulsants which are recognized as the most common cause of this disorder. Cranial irradiation may act as a precipitating factor along with anticonvulsants for the development of TEN. We report a 28-year-old patient with central nervous system (CNS) relapsed non-Hodgkin lymphoma (NHL) who developed TEN after cranial radiotherapy and concurrent phenytoin treatment.
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BACKGROUND: Overlap of bullous pemphigoid (BP) with chronic psoriatic plaques (CPP) is a common condition. However, the association of BP with pustular psoriasis (PP) is uncommon. Moreover, perilesional erythema and pustular lesions on CPP are accepted as a sign of unstable psoriasis. Unstable psoriasis could be triggered by certain irritant topical treatments against psoriasis. These chemical agents could also induce a localized pattern of generalized PP. Here, we describe BP and PP collision in unstable CPP. OBJECTIVE: By this observation we suggest that BP could be a sign of active psoriasis. Presumably, psoriasis-induced BP is an inflammation activity-dependent condition. METHODS: This study is a case report and literature review. RESULTS: The dramatic response of bullo-pustular lesions to short-term methotrexate (MTX) treatment suggests the rule of 'no psoriasis, no BP'. Presumably, MTX supressed the active inflammation of CPP and BP disappeared following CPP control. CONCLUSION: BP can be a sign of active psoriasis in the present case.
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Penfigoide Bolhoso/complicações , Psoríase/complicações , Idoso , Humanos , Masculino , Penfigoide Bolhoso/tratamento farmacológico , Penfigoide Bolhoso/patologia , Psoríase/tratamento farmacológico , Psoríase/patologiaRESUMO
BACKGROUND: Basal cell carcinoma (BCC) in central facial locations and tumors with positive margins are at a higher risk of recurrence. The most effective treatment is total excision, which includes an adequate pathological margin. OBJECTIVE: To evaluate the outcome of the patients who underwent surgery for BCCs of the head and neck and of those who had positive surgical margins where Mohs surgery is not available. METHODS: This study was conducted at Ege University Medical School between 2004 and 2014. One hundred thirty patients with 154 BCC who underwent surgical excision were included. In the histopathologic report, the existence of positive margin, BCC subtype, localization of the tumor, and distance of margins to the tumor were evaluated. RESULTS: Twenty-three lesions (14.9%) of 22 patients revealed positive surgical margins. Six patients (26.1%) had recurrences on the surgical site. The BCC subtypes of recurrent patients were reported to be multifocal superficial in 2 (33.3%), infiltrative (16.7%) in 1, and micronodular (50%) in 3. CONCLUSION: Patients with superficial multifocal or micronodular tumors should undergo reoperation because of high recurrence rates.
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Carcinoma Basocelular/cirurgia , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias Cutâneas/cirurgia , Idoso , Idoso de 80 Anos ou mais , Carcinoma Basocelular/epidemiologia , Carcinoma Basocelular/patologia , Feminino , Seguimentos , Neoplasias de Cabeça e Pescoço/epidemiologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/cirurgia , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Resultado do Tratamento , Turquia/epidemiologiaRESUMO
BACKGROUND: The incidence of mutations in malignant melanoma varies remarkably according to the subtype of melanoma, and this in itself is affected by racial and geographical factors. Studies screening melanoma case series for different types of mutations are relatively rare. METHOD: The authors analyzed the frequency of various somatic point mutations of 10 genes in 106 primary cutaneous melanoma cases. The mutations (BRAF, NRAS, KIT, CDKN2A, KRAS, HRAS, PIK3CA, STK11, GNAQ, CTNNB1) were evaluated with real-time PCR-based PCR-Array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. RESULTS: Mutations were found in 64.2% of the melanomas overall. BRAF (42.5%), NRAS (15.1%), and CDKN2A (13.2%) were the 3 most common mutations. BRAF and NRAS mutations were more frequent in nodular and superficial spreading melanomas (P < 0.001). Associations with BRAF mutation were as follows: male gender [odds ratio (OR) = 2.4], younger age (OR = 2.7), superficial spreading (OR = 15.6) and nodular melanoma (OR = 9.5), trunk localization (OR = 6.3), and intermittent sun exposure (OR = 4.6). A considerable percentage of V600K (44.4%) mutations were found among the BRAF mutations, whereas KIT mutations (3.8%) were less frequent. Multiple mutations were detected in 13.2% of the melanomas. The most common co-occurrences were in the BRAF, NRAS, and CDKN2A genes. CONCLUSIONS: The authors analyzed 10 somatic mutations in the main subtypes of primary cutaneous melanomas from the western region of Turkey. Mutations were found in 64.2% of the melanomas overall. The most common mutations were in the BRAF and NRAS genes. In addition to other less common mutations, a notable number of multiple mutations were encountered. The multiplicity and concurrence of mutations in this study may provide further study areas for personalized targeted therapy.
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Biomarcadores Tumorais/genética , Análise Mutacional de DNA , Melanoma/genética , Mutação Puntual , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Análise Mutacional de DNA/métodos , Feminino , GTP Fosfo-Hidrolases/genética , Frequência do Gene , Genes p16 , Predisposição Genética para Doença , Humanos , Modelos Logísticos , Masculino , Melanoma/patologia , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Valor Preditivo dos Testes , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas c-kit/genética , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco , Neoplasias Cutâneas/patologia , Turquia , Adulto JovemRESUMO
PURPOSE: To investigate limbal stem cell deficiency (LSCD) in patients surgically treated for ocular surface squamous neoplasia (OSSN). METHODS: This retrospective case-control study investigated clinical and histological data from patients with OSSN surgically treated in a referral center. RESULTS: The study included 98 patients (58 male, 40 female) with a mean age of 61.1 (23-86) years. Less than 3 clock hours were involved by OSSN in 48 eyes (49.0%), 3-6 clock hours in 32 eyes (32.7%), 6-9 clock hours in 12 eyes (12.2%), and more than 9 clock hours in 6 eyes (6.1%). Limbal stem cell deficiency was identified in 36 patients (36.7%) after surgery. The severity of LSCD was mild in 17 eyes, moderate in 11, and severe in 8. The prevalence of LSCD increased significantly in groups with 6 clock hours or more of OSSN involvement (p < 0.001). The affected limbal side (superior, inferior, nasal, or temporal) had no significant association with the prevalence of LSCD (p = 0.869). Patients with recurrent OSSN had a higher LSCD prevalence (p = 0.003). The higher the tumor stage, the more likely it was to develop LSCD (p < 0.001). Patients with corneal involvement were also more likely to develop LSCD (p = 0.021). The prevalence of LSCD was raised with increasing histopathological grade (p = 0.019). Furthermore, solely the number of clock hours affected by OSSN was an independent risk factor in multivariate analyses (p < 0.001). CONCLUSIONS: The size and severity of OSSN and the presence of recurrent OSSN are associated with an increased likelihood of developing LSCD. Furthermore, the extent of the limbal area involved by the OSSN is identified as an independent risk factor of the development of LSCD.
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Small cell lung carcinoma (SCLC) is a neuroendocrine tumor with high probability of early disseminated disease and paraneoplastic syndromes. Choroid is the most common uveal tissue affected by metastatic disease followed by iris and ciliary body. Herein, we present a 46-year-old male with bilateral multiple iris metastasis. Once diagnosed, the patient already had diagnosis of SCLC with cranial and bone metastases.