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2.
Clin Exp Dermatol ; 49(4): 364-367, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38001055

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 1 mg three times weekly to 8 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 Acadêmicos
3.
Am J Dermatopathol ; 44(9): 669-674, 2022 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-35503889

RESUMO

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.


Assuntos
Neoplasias Bucais , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Neoplasias Bucais/patologia
4.
Am J Dermatopathol ; 44(10): 741-747, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35503891

RESUMO

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/patologia
6.
Am J Dermatopathol ; 44(3): 190-195, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-34966051

RESUMO

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.


Assuntos
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/diagnóstico
7.
Int J Dermatol ; 59(8): 936-937, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32216107
8.
Eur J Med Genet ; 63(7): 103879, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32045706

RESUMO

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.


Assuntos
Alelos , Cadeias HLA-DRB1/genética , Complexo Principal de Histocompatibilidade/genética , Síndrome de Melkersson-Rosenthal/genética , Adolescente , Adulto , Idoso , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Doença de Crohn/genética , Feminino , Genes MHC Classe I/genética , Genes MHC da Classe II/genética , Predisposição Genética para Doença , Granulomatose Orofacial/genética , Cadeias beta de HLA-DQ , Humanos , Lactente , Doenças Inflamatórias Intestinais , Masculino , Pessoa de Meia-Idade , Pacientes , Adulto Jovem
10.
Am J Dermatopathol ; 39(2): 104-110, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28134726

RESUMO

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 Polimerase
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