RESUMO
BACKGROUND: Patients with delusional infestation (DI) frequently refuse to be treated with psychoactive drugs. In the past, pimozide was commonly used as a first-line agent but is now prescribed more rarely. Risperidone was first used to treat DI in 1995. A recent review identified 12 studies that evaluated the use of risperidone in 43 patients with DI. OBJECTIVES: To study the characteristics of and therapeutic results in patients with DI treated with risperidone at a university medical centre in São Paulo, Brazil. METHODS: We performed a retrospective study of patients with DI treated with risperidone at a dermatological university clinic since 2016. Records were reviewed for personal data and findings related to treatment. RESULTS: Twenty-seven patients were studied (20 women and 7 men). The maintenance dose of risperidone varied from 1â mg three times weekly to 8â mg daily. Control of symptoms was achieved in the majority of patients. A reduction in dosage due to side-effects was seen in four patients; risperidone had to be switched to another antipsychotic in three cases, despite a good response. Only one patient did not respond to risperidone. CONCLUSIONS: Risperidone is an effective, well-tolerated and safe treatment for delusional parasitosis. Adequate follow-up is mandatory in order to obtain long-term control of symptoms.
Assuntos
Antipsicóticos , Risperidona , Masculino , Humanos , Feminino , Risperidona/uso terapêutico , Estudos Retrospectivos , Brasil , Antipsicóticos/uso terapêutico , Centros Médicos AcadêmicosRESUMO
ABSTRACT: Oral cavity is not a common route for metastatic dissemination; metastasis to the oral region may affect soft tissues and jawbones, accounting for approximately 1% of all oral malignant neoplasms. The diagnosis of metastatic lesions to the oral cavity is usually challenging to clinicians and pathologists because of their complexity and rarity. We present a series of 12 metastatic neoplasms to the oral cavity that were detected previously or after the diagnosis of the primary tumor. All tumors were of epithelial origin with primary sites in the esophagus (2 cases), colon (2 cases), bladder, lungs, liver, larynx, skin, uterus, prostate, and adrenal gland, each with one case. The commonest site of the metastatic masses in the oral cavity was the gingiva, frequently presented as a vegetating, friable mass. The clinical examination and histopathologic analysis of the lesions were central to establishing the final diagnosis of the tumors. Metastatic masses to the oral cavity should always be considered as differential diagnosis of benign-looking lesions, especially in patients with previous history of a malignant disease. Biopsy is mandatory to establish an accurate diagnosis.
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Neoplasias Bucais , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Neoplasias Bucais/patologiaRESUMO
ABSTRACT: Cutaneous adnexal tumors are benign and malignant neoplasms that undergo morphological differentiation into cutaneous adnexa, comprising pilosebaceous, eccrine, or apocrine units. Reflectance confocal microscopy is a noninvasive diagnostic method that enables in vivo visualization of tissues at a similar resolution as conventional histopathology. The use of this method in skin imaging over the past several years has improved dermatological diagnoses, potentiating its wide application, especially for benign and malignant skin tumors. We describe the use of reflectance confocal microscopy in cases of trichoepithelioma, sebaceoma, and fibrofolliculoma and correlate the resulting clinical, histopathological, and confocal microscopy images.
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Síndrome de Muir-Torre/patologia , Neoplasias de Anexos e de Apêndices Cutâneos/patologia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/patologia , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Muir-Torre/diagnóstico , Neoplasias de Anexos e de Apêndices Cutâneos/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Neoplasias Cutâneas/diagnósticoRESUMO
ABSTRACT: Melanomas that arise in sun-protected sites, including acral and oral mucosal melanomas, are likely under the control of unique, specific mechanisms that lead to mutagenesis through various pathways. In this study, we examined somatic mutations in tumors by targeted sequencing using a custom Ion Ampliseq Panel, comprising hotspots of 14 genes that are frequently mutated in solid tumors. Tumor DNA was extracted from 9 formalin fixation, paraffin-embedded sun-protected melanomas (4 primary oral mucosal melanomas and 5 acral lentiginous melanomas), and we identified mutations in the NRAS , PIK3CA , EGFR , HRAS , ERBB2 , and ROS1 genes. This study reveals new actionable mutations that are potential targets in the treatment of photo-protected melanomas. Additional studies on more of these melanoma subtypes could confirm our findings and identify new mutations.
Assuntos
Melanoma , Neoplasias Cutâneas , Classe I de Fosfatidilinositol 3-Quinases/genética , Formaldeído , Humanos , Melanoma/patologia , Mutação , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas c-kit/genética , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: Primary Sjögren's syndrome (pSS) is an important cause of xerostomia, and the presence of this symptom in lupus erythematosus (LE) is usually referred to as secondary SS. Although these diseases share many clinical and laboratory aspects, the histopathological changes of minor salivary glands (MSG) have been widely evaluated to determine whether this damage is specific for each disease. Based on this query, the aim of this study was to analyze morphological findings of minor salivary glands in pSS or LE. METHODS: Two groups of 30 (MSG) from patients with pSS and LE were histopathologically evaluated, and the results were statistically analyzed using the two-tailed Fisher exact test. RESULTS: The morphological changes were distinct among the groups and statistically significant. In pSS, the most evident features were the focal lymphocytic ductal aggression, with the focus score ≥1 and the periductal fibroplasia, while in LE, perivascular inflammatory infiltrate, spongiosis of ductal cells not associated with the exocytosis, and hyalinization of the periductal basement membrane were detected. CONCLUSIONS: These results indicated that in each disorder, MSG have their specific morphological changes, which lead to xerostomia, and the impairment of MSG in LE is probably due to a lupus sialadenitis.
Assuntos
Lúpus Eritematoso Sistêmico/complicações , Glândulas Salivares Menores/patologia , Síndrome de Sjogren/complicações , Xerostomia/etiologia , Xerostomia/patologia , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemAssuntos
Alopecia , Líquen Plano , Alopecia/epidemiologia , Fibrose , Hormônios Esteroides Gonadais , Humanos , Masculino , Estudos RetrospectivosRESUMO
Syringomas are benign adnexal tumors that are characterized histologically by the presence of small solid and cystic epithelial structures in the upper half of the reticular dermis. Reflectance confocal microscopy is a noninvasive diagnostic method that enables in vivo visualization of tissues with a resolution that approximates that of conventional histopathology. The use of this method in skin imaging over the past several years has improved dermatological diagnoses, creating the potential for its wide application in such diagnoses, especially for benign and malignant skin tumors. We describe its use in the diagnosis of syringoma in 2 patients and correlate the resulting clinical, histopathological, and digital reflectance confocal microscopy images.
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Microscopia Confocal/métodos , Neoplasias das Glândulas Sudoríparas/patologia , Siringoma/patologia , Biópsia , Feminino , Humanos , Valor Preditivo dos TestesRESUMO
Primary oral mucosal melanoma is an extremely rare and aggressive tumor arising from melanocytes located in the mucosal epithelium of the oral cavity. Although malignant melanoma of oral mucosa shares some clinical features with its cutaneous counterpart, it has been associated with a worst prognosis; its etiopathogenesis are still only partially unraveled as there is no influence of UV radiation. It is known that the mitogen-activated protein kinase pathway mediates cellular responses to growth signals and its activation is an important phenomenon in melanoma. The aim of this study was to evaluate NRAS and BRAF genes, both components of mitogen-activated protein kinase molecular pathway, and compare with their protein expression. Point mutations of NRAS (codons 12, 13, and 61) and BRAF (codon 600) were screened by pyrosequencing method, and its results were associated to the protein expression of RAS and BRAF performed by immunohistochemistry. The authors observed mutation in BRAF 600 (3/14), NRAS codons 12 and 13 (2/14), and NRAS codon 61 (2/8). One case showed positive RAS protein expression, but no mutation was observed. Twelve in 14 cases showed positive BRAF protein expression: 3 cases showed BRAF mutation; 2 cases showed NRAS codon 61 mutation; 2 cases showed NRAS codons 12 and 13 mutation but not simultaneously. Although NRAS and BRAF mutation frequency and RAS protein expression are low, BRAF protein expression was intense; probably, NRAS and BRAF mutations are independent events and alternative molecular mechanisms in the primary oral mucosal melanoma tumorigenesis.
Assuntos
GTP Fosfo-Hidrolases/genética , Melanoma/genética , Proteínas de Membrana/genética , Neoplasias Bucais/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adulto , Idoso , Análise Mutacional de DNA , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Mucosa Bucal/patologia , Reação em Cadeia da PolimeraseRESUMO
Cheilitis glandularis (CG) is an uncommon condition of unknown origin; it is clinically characterized by variable degrees of macrocheilia associated with red dilated ostia of minor salivary glands on the vermilion area, which secrete viscous saliva. Histopathological characteristics of CG are comprised of chronic sialadenitis with engorged acinar lobules and dilated ducts; CG also features chronic sun damage (actinic cheilitis and squamous cell carcinoma). These changes may be localized, and a punch biopsy specimen might fail to reveal enough criteria to support the diagnosis of CG. Reflectance confocal microscopy (RCM) is a noninvasive imaging technique that enables an in vivo en face visualization of tissues with a resolution close to conventional histopathology. Its use allows analysis of the entire lip, without excision. We reported the evaluation of 5 cases of CG based on clinical RCM and histopathological correlation. RCM examination of the lip vermilion mainly revealed a bright aspect of the superficial epithelial layers, which corresponded to labial keratosis. Alteration of the classical epithelial honeycomb pattern was observed in RCM, which corresponded to epithelial changes in actinic cheilitis at histopathology. Round, dark empty spaces intermingling the epithelium, corresponded to the ectopic excretory salivary gland ducts that open their ostia within the lip vermilion. In the lamina propria, the most striking feature was superficial salivary gland lobules, seen as dark gray lobular structures. Our study, demonstrated the use of RCM in the evaluation of CG, showing that a correlation between the clinical, digital RCM images and histopathology improved the diagnostic skills in CG evaluation.
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Queilite/patologia , Microscopia Confocal/métodos , Sialadenite/patologia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The etiology and pathogenesis of lentiginous acral melanomas are poorly understood. Recent studies have postulated that DNA repair mechanisms and cell growth pathways are involved in the development of melanoma, particularly changes in the MAPK pathways (RAS, BRAF, MEK 1/2, and ERK 1/2). The aim of this study is to assess the status of the MAP kinase pathways in the pathogenesis of acral melanomas. The authors examined the components of the RAS-RAF-MEK-ERK cascades by immunohistochemistry in a series of 16 primary acral melanomas by tissue microarray. The expression of MAP kinase cascade proteins changed in most cases. The authors observed that 57.14% of cases were BRAF positive and that 61.53%, 71.42%, and 71.42% of cases were positive for MEK2, ERK1, and ERK2, respectively; RAS was not expressed in 92.31%, and all cases were negative for MEK1. The absence of RAS and positivity for MEK2, ERK1, and ERK2 were most seen in invasive cases with high thickness. These aspects of the MAPK pathway require further examination in acral melanomas between different populations. Nevertheless, the results highlight significant alterations in the MAP kinase cascades that are related to histological indicators of prognosis in primary acral melanomas.
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Biomarcadores Tumorais/análise , Sistema de Sinalização das MAP Quinases/fisiologia , Melanoma/metabolismo , Melanoma/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Análise Serial de Tecidos , Adulto JovemRESUMO
Head and neck mucosal melanoma (MM) is an aggressive and rare neoplasm of melanocytic origin. To date, few retrospective series and case reports have been reported on MM. This article reviews the current evidence on head and neck MM and the molecular pathways that mediate the pathogenesis of this disease. Head and neck MM accounts for 0.7%-3.8% of all melanomas and involve (in decreasing order of frequency) the sinonasal cavity, oral cavity, pharynx, larynx, and upper esophagus. Although many studies have examined MM of the head and neck and the underlying molecular pathways, individual genetic and molecular alterations were less investigated. Further studies are needed to complement existing data and to increase our understanding of melanocytes tumorigenesis.
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Neoplasias de Cabeça e Pescoço/patologia , Melanoma/patologia , Mucosa/patologia , Neoplasias de Cabeça e Pescoço/epidemiologia , Humanos , Melanoma/epidemiologiaAssuntos
Adenocarcinoma/diagnóstico , Neoplasias da Vesícula Biliar/diagnóstico , Metástase Neoplásica/patologia , Neoplasias Cutâneas/diagnóstico , Derivação Ventriculoperitoneal/efeitos adversos , Adenocarcinoma/secundário , Idoso , Feminino , Neoplasias da Vesícula Biliar/patologia , Humanos , Neoplasias Cutâneas/secundárioRESUMO
Oral mucosal melanoma is rare. Its incidence peaks between 41 and 60 years of age; male/female ratio is 2:1. Preferred oral sites include hard palate and maxillary gingiva. Risk factors have not been clearly identified, but pigmented lesions may be present before the diagnosis of oral melanoma. We report an unusual case of oral mucosal melanoma of long-standing duration on hard palate and maxillary alveolar ridge in a male patient. Histopathologic features confirmed the diagnosis of invasive melanoma with a prominent in situ component. A cell lineage derived from the tumor was established and characterized, with phenotypic markers of melanocytes.
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Linhagem Celular Tumoral , Melanoma/patologia , Neoplasias Bucais/patologia , Idoso , Humanos , Masculino , Mucosa Bucal/patologia , Palato Duro/patologiaRESUMO
The etiology and pathogenesis of oral mucosal melanomas are poorly understood, and no intraoral risk factors have been identified. Recent studies have postulated that DNA repair mechanisms and cell growth pathways are involved in the development of melanoma-particularly changes in the CDKN2A (p16-cyclinD-Cdk-pRb) and MAPK pathways (RAS, BRAF, MEK 1/2, and ERK 1/2 proteins). We examined the central components of the CDKN2A and RAS-RAF-MEK-ERK cascades by immunohistochemistry in a series of 35 primary oral melanomas by tissue microarray (TMA). We noted altered expression of the CDKN2A cascade proteins, although these modulations did not correlate significantly with clinical and pathological parameters. The expression of MAP kinase cascade proteins changed in most cases. We observed that 28.57% of cases were RAS-positive and that 82.85% and 74.28% of cases were positive for BRAF and ERK2, respectively; MEK2 and ERK1 were not expressed in 48.57% and 80% of cases, and all cases were negative for MEK1. The absence of RAS and ERK1 and positivity for BRAF and ERK2 were associated with higher histological grade, vascular invasion, and metastasis. Expression of MEK2 was significantly linked to vascular invasion (P = 0.043). The CDKN2A and MAPK pathways require further study in mucosal melanomas, but our results highlight the significance of important alterations, particularly with regard to histological indicators of poor prognosis in primary oral mucosal melanomas, independent of UV exposure.
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Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Sistema de Sinalização das MAP Quinases/fisiologia , Melanoma/metabolismo , Mucosa Bucal/metabolismo , Neoplasias Bucais/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Imuno-Histoquímica , Masculino , Melanoma/patologia , Pessoa de Meia-Idade , Mucosa Bucal/patologia , Neoplasias Bucais/patologia , Análise Serial de Tecidos , Adulto JovemRESUMO
Pyostomatitis vegetans (PSV) is an intraoral pustular eruption considered by most authors to represent the mucous analogous of cutaneous pyoderma gangrenosum and its vegetating presentations (pyodermatitis vegetans). A strong correlation of PSV with inflammatory bowel disease (IBD) is well documented. The histopathology of PSV lesions usually reveals acanthosis, and neutrophils and/or eosinophils infiltration with intraepithelial or subepithelial abscesses; acantholysis is present in some cases. We studied four patients with IBD that presented oral lesions suggestive of PSV. Two male and two female patients were included. The histopathology of oral lesions of two patients revealed findings typical for PSV. The other two patients showed findings typical for pemphigus vulgaris (PV), although the course of their symptoms paralleled that of the bowel disease. Our findings may suggest that pustular lesions in patients with IBD can be a presentation of both PSV and PV; adequate diagnosis is required because clinical presentation is very similar.
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Colite/diagnóstico , Pênfigo/diagnóstico , Pioderma Gangrenoso/diagnóstico , Pioderma/diagnóstico , Estomatite/diagnóstico , Acantólise/patologia , Adulto , Complemento C3/análise , Eosinófilos/patologia , Feminino , Humanos , Imunoglobulina G/análise , Masculino , Pessoa de Meia-Idade , Mucosa Bucal/patologia , Neutrófilos/patologia , Proctocolite/diagnóstico , Estomatite/patologiaRESUMO
Toxic epidermal necrolysis-like lesions have been described in the setting of lupus erythematosus, and have been considered as a specific hyperacute variant of cutaneous lupus erythematosus, with features different from classical drug-related toxic epidermal necrolysis. We report here a series of three patients with lupus erythematosus who presented with severe worsening of their cutaneous disease in a toxic epidermal necrolysis-like fashion. We compared these cases with cases reported previously. Based on this discussion, we speculate that some of these patients may have classical drug-related toxic epidermal necrolysis rather than lupus erythematosus-related toxic epidermal necrolysis.
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Lúpus Eritematoso Cutâneo/patologia , Pele/patologia , Síndrome de Stevens-Johnson/patologia , Adolescente , Azatioprina/uso terapêutico , Cloroquina/análogos & derivados , Cloroquina/uso terapêutico , Diagnóstico Diferencial , Quimioterapia Combinada , Feminino , Humanos , Imunossupressores/uso terapêutico , Lúpus Eritematoso Cutâneo/tratamento farmacológico , Prednisolona/uso terapêutico , Índice de Gravidade de Doença , Pele/efeitos dos fármacos , Síndrome de Stevens-Johnson/tratamento farmacológico , Resultado do Tratamento , Adulto JovemRESUMO
Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease that manifests by the triad of recurrent orofacial edema (frequently as cheilitis granulomatosa), relapsing facial paralysis and plicated tongue. The cause of MRS remains unknown, but genetic predisposal and a relationship with inflammatory bowel disease are suspected. The objective of this research was to compare the frequency of class I and II HLA alleles in patients with a confirmed diagnosis of MRS with those of a healthy control group. We conduct a case-control study and typed of HLA A, B, C, DR, and DQ using molecular techniques. The study included 36 patients with MRS and 297 patients in the control group. There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277]), HLA DRB1*13 (not statistically significant) and HLA DQB1*03 (p = 0,0177; OR: 1,829 [1,122-2,978]) and low levels of HLA A*01 (p = 0.0046; OR: 0,097 [0,009-0,538]), HLA DRB1*04 (p = 0.0274; OR: 0,228 [0,053-0,844]), HLA DRB1*07 (p = 0,0091; OR: 0,183 [0,043-0,670]) and HLA DQB1*02 (p = 0.0051; OR: 0,312 [0,143-0,721]) in MRS patients compared with the control group. Crohn disease (CD) patients had disparate genetic profiles versus those with MRS. This single-institution study had a small cohort, because this disease is rare. Conclusions: There is a genetic predisposition toward MRS, involving associated and protective genes.