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1.
J Card Surg ; 35(7): 1732-1735, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32484981

RESUMO

BACKGROUND: We encountered an extremely rare case of perivascular epithelioid cell tumor (PEComa) of the heart. CASE REPORT: A 54-year-old woman was admitted to our hospital because a solid mass developing in the left atrioventricular groove by computed tomography scans of the chest. Histologic examination of the resected tumor revealed that the tumor had proliferating fusiform or spheroid cells with clear cytoplasm. Immunostaining showed positive results for α-smooth muscle actin, a myogenic marker, and human melanin black-45 (HMB-45), leading to a diagnosis of PEComa. The patient was discharged uneventfully, and there was no recurrence for the last thirteen years postoperatively. CONCLUSIONS: We experienced a surgical case of PEComa primarily occurring in the heart. Although no sign of a recurrence is observed to date, we consider it necessary to follow up the case carefully.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Neoplasias Cardíacas/cirurgia , Neoplasias de Células Epitelioides Perivasculares/cirurgia , Actinas/análise , Biomarcadores Tumorais/análise , Feminino , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/patologia , Humanos , Antígenos Específicos de Melanoma/análise , Pessoa de Meia-Idade , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/patologia , Doenças Raras , Tomografia Computadorizada por Raios X , Resultado do Tratamento
2.
Am J Case Rep ; 21: e921353, 2020 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-32172274

RESUMO

BACKGROUND Microscopic tumor foci have been detected incidentally on renal biopsy, including renal cell carcinoma and renomedullary interstitial cell tumor (medullary fibroma). A report is presented of a case of an incidental finding of microscopic renal angiomyolipoma that was diagnosed and completely excised on core needle biopsy. CASE REPORT A 44-year-old woman was referred to our hospital for evaluation of persistent mild proteinuria. Three years previously, she was diagnosed with Cushing's syndrome associated with a right adrenal cortical adenoma, which was successfully treated with unilateral adrenalectomy. At the time of surgery, abdominal computed tomography (CT) showed no renal lesions. During the present admission, a renal biopsy was performed that showed minimal changes in the renal glomeruli and interstitium. Immunofluorescence showed weakly positive staining for IgM in the glomeruli and no dense deposits. A microscopic focus of a predominantly spindle-cell tumor was found in the corticomedullary region. Immunohistochemistry showed positive immunostaining for HMB-45, Melan-A, and alpha-smooth muscle actin (ASMA), which supported a diagnosis of angiomyolipoma. Abdominal ultrasound at one-year follow-up showed no evidence of residual renal tumor. CONCLUSIONS To our knowledge, this is the first reported case of a completely excised incidental microscopic renal angiomyolipoma. This case demonstrated that even when imaging findings are normal, renal biopsy may detect microscopic foci of primary renal tumors.


Assuntos
Angiomiolipoma/diagnóstico , Angiomiolipoma/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/patologia , Actinas/análise , Adulto , Angiomiolipoma/cirurgia , Biomarcadores Tumorais , Biópsia com Agulha de Grande Calibre , Feminino , Humanos , Imuno-Histoquímica , Achados Incidentais , Neoplasias Renais/cirurgia , Antígeno MART-1/análise , Antígenos Específicos de Melanoma/análise
5.
Am J Surg Pathol ; 43(10): 1368-1376, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31162285

RESUMO

Recurrent activating Gαq mutations in the spectrum of blue nevi have been well studied. However, the clinicopathologic characteristics of the recently described CYSLTR2-mutant and PLCB4-mutant blue nevi remain limited, owing to their rarity. Herein, we present 7 CYSLTR2-mutant melanocytic neoplasms, including 1 cellular blue nevus, 4 atypical cellular blue nevi, and 2 blue nevus-like melanomas. They occurred on the scalp, breast, flank, forearm, thigh, leg, and ankle of 3 male patients and 4 female patients, with a median age of 43 (25 to 81) years at diagnosis. Five exhibited an exophytic growth, and 6 were heavily pigmented. A fascicular arrangement of medium to large spindle melanocytes was seen in 6 cases, but epithelioid cytology was present in only 2 cases, one of them being focal. A junctional component was present in 3 cases. Immunoreactivity for HMB45 was diffusely present, except in 1 cellular blue nevus. BAP1 nuclear immunoexpression was lost in 1 melanoma case. A canonical CYSLTR2 L129Q hotspot mutation was present in all cases. Altogether, these histopathologic findings suggest that CYSLTR2-mutant melanocytic blue neoplasms frequently exhibit a heavily pigmented exophytic tumor with a silhouette resembling "pigmented epithelioid melanocytoma" rather than usual cellular blue nevus. Moreover, most of these tumors were not clinically recognized as blue nevi and not located in the classic topography of cellular blue nevus aside from the scalp. However, a fascicular arrangement of medium to large-sized spindled melanocytes, as well as a lack of epithelioid or nevoid melanocytes, could be potential diagnostic clues to morphologically distinguish CYSLTR2-mutant tumors from "pigmented epithelioid melanocytoma."


Assuntos
Biomarcadores Tumorais/genética , Melanócitos/patologia , Mutação , Nevo Azul/genética , Receptores de Leucotrienos/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Melanócitos/química , Antígenos Específicos de Melanoma/análise , Pessoa de Meia-Idade , Nevo Azul/química , Nevo Azul/classificação , Nevo Azul/patologia , Valor Preditivo dos Testes , Neoplasias Cutâneas/química , Neoplasias Cutâneas/classificação , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/análise , Ubiquitina Tiolesterase/análise
7.
Arch Pathol Lab Med ; 143(9): 1126-1130, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30855172

RESUMO

CONTEXT.­: Currently, no universal protocol exists for the assessment of sentinel lymph nodes (SLNs) in cutaneous melanoma. Many institutions use a multistep approach with multiple hematoxylin-eosin (H&E) and immunohistochemical stains. However, this can be a costly and time- and resource-consuming task. OBJECTIVE.­: To assess the utility for multistep protocols in the analysis of melanoma SLNs by specifically evaluating the Calgary Laboratory Services (CLS) protocol (which consists of 3 H&E slides and 1 S100 protein, 1 HMB-45, and 1 Melan-A slide per melanoma SLN block) and to develop a more streamlined protocol. DESIGN.­: Histologic slides from SLN resections from 194 patients with diagnosed cutaneous melanoma were submitted to the CLS dermatopathology group. Tissue blocks were processed according to the CLS SLN protocol. The slides were re-reviewed to determine whether or not metastatic melanoma was identified microscopically at each step of the protocol. Using SPSS software, a decision tree was then created to determine which step most accurately reflected the true diagnosis. RESULTS.­: We found with Melan-A immunostain that 337 of 337 negative SLNs (100%) were correctly diagnosed as negative and 55 of 56 positive nodes (98.2%) were correctly diagnosed as positive. With the addition of an H&E level, 393 of 393 SLNs (100%) were accurately diagnosed. CONCLUSIONS.­: We recommend routine melanoma SLN evaluation protocols be limited to 2 slides: 1 H&E stain and 1 Melan-A stain. This protocol is both time- and cost-efficient and yields high diagnostic accuracy.


Assuntos
Técnicas Histológicas/métodos , Melanoma/patologia , Biópsia de Linfonodo Sentinela/métodos , Linfonodo Sentinela/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Corantes , Amarelo de Eosina-(YS) , Feminino , Hematoxilina , Humanos , Imuno-Histoquímica/métodos , Antígeno MART-1/análise , Masculino , Melanoma/química , Antígenos Específicos de Melanoma/análise , Pessoa de Meia-Idade , Melhoria de Qualidade , Proteínas S100/análise , Sensibilidade e Especificidade , Neoplasias Cutâneas/química
8.
Ann Pathol ; 39(5): 352-356, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-30824318

RESUMO

Meningeal melanocytic tumors are rare. We report an exceptional case of transformation of a meningeal melanocytoma in a malignant melanoma. The course of the disease extents from 61-years to 85-years and ends with the death of the patient. Besides histopathological and immunohistochemical data, we also report the array CGH study of the melanocytoma and melanoma components suggesting the malignant transformation from whole chromosome gains in the melanocytoma to additional segmental aberrations in the malignant melanoma. Beyond the rarity of this tumor subtype, this case report highlights the potential interest of molecular analyses for diagnostic and prognostic purposes in the field of meningeal melanocytic tumors.


Assuntos
Transformação Celular Neoplásica/patologia , Melanócitos/patologia , Melanoma/patologia , Neoplasias Meníngeas/patologia , Biomarcadores Tumorais/análise , Transformação Celular Neoplásica/genética , Hibridização Genômica Comparativa , Evolução Fatal , Seguimentos , Humanos , Masculino , Melanoma/complicações , Melanoma/genética , Melanoma/cirurgia , Antígenos Específicos de Melanoma/análise , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/cirurgia , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/genética , Reoperação , Distúrbios Somatossensoriais/etiologia , Tomografia Computadorizada por Raios X , Transtornos da Visão/etiologia
9.
Ann Dermatol Venereol ; 146(5): 372-376, 2019 May.
Artigo em Francês | MEDLINE | ID: mdl-30910333

RESUMO

BACKGROUND: Myxoid melanoma is a rare variant of melanoma that must be recognised. Herein we describe a new metastatic case. PATIENTS AND METHODS: A 78-year-old woman consulted for a firm, pinkish nodule measuring 25mm and present for six months on her left leg. Analysis of the biopsy revealed achromic fusiform tumour cells separated by large myxoid plaques. Labeling of SOX10, HMB45 and PS100 was diffuse and of moderate to strong intensity. A diagnosis of myxoid melanoma was considered, with Breslow thickness of 9mm. Surgery was carried out with a 2-cm margin and confirmed the diagnosis. Dermatological follow-up at one year revealed metastatic spread to the ganglia, pleura, liver and bone. DISCUSSION: Few cases of primary myxoid melanoma have been described, and the condition is probably underdiagnosed. The classic clinical presentation of this condition consists of a solitary achromic nodule found chiefly on the limbs. The microscopic appearance is relatively non-specific. Immunohistochemical analysis may indicate melanocytic involvement: cells exhibit expression of SOX10, diffuse expression of protein S100, and less consistent and more variable expression of HMB45. The increasingly common use of anti-SOX10 is of value since it is expressed in the nucleus of melanocytes. Mastocytes and TGF-ß secretion appear to be involved in myxoid stroma production. In the absence of specific codification, management of myxoid melanoma is comparable to that of other types of melanoma. There is uncertainty about the prognosis, with the involvement of TGF-ß possibly indicating the aggressive potential of this type of tumour.


Assuntos
Perna (Membro) , Melanoma/patologia , Neoplasias Cutâneas/patologia , Idoso , Biomarcadores Tumorais/análise , Biópsia , Feminino , Humanos , Melanócitos/química , Melanoma/química , Antígenos Específicos de Melanoma/análise , Proteínas S100/análise , Fatores de Transcrição SOXE/análise , Neoplasias Cutâneas/química
10.
Am J Dermatopathol ; 41(3): 230-231, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30045073

RESUMO

Traumatic neuroma is a reactive non-neoplastic neural proliferation that results from trauma. Although such type of lesions found surgical scars due to different reasons, its involvement by residual or recurrent malignancies is rarely reported. In this article, we describe an unusual case of traumatic neuroma with perineural invasion by invasive melanoma.


Assuntos
Proliferação de Células , Melanoma/patologia , Neuroma/patologia , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Biópsia , Humanos , Imuno-Histoquímica , Masculino , Melanoma/química , Melanoma/cirurgia , Antígenos Específicos de Melanoma/análise , Pessoa de Meia-Idade , Invasividade Neoplásica , Neuroma/química , Neuroma/etiologia , Neuroma/cirurgia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/cirurgia
11.
Rev Esp Patol ; 51(4): 244-247, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30269776

RESUMO

Primary melanoma of the urinary bladder is rare. We report a case of a 58-year-old woman, who presented with a 4 month history of dysuria and hematuria. A biopsy indicated a diagnosis of invasive melanoma and a partial cystectomy was performed. The neoplasm had invaded the entire thickness of the bladder wall and the neoplastic cells were positive for Melan A and HMB-45. Four months later a urinary bladder measuring 13×7×5cm was sent for histopathology. Melanoma, melanosis and a melanocytic nevus were seen; the latter was confirmed by the positivity to melanocytic markers of non-atypical cells in both the urothelial basal layer and areas distant from the tumour. The patient died nine months later.


Assuntos
Melanoma/patologia , Neoplasias da Bexiga Urinária/patologia , Biomarcadores Tumorais/análise , Cistectomia/métodos , Evolução Fatal , Feminino , Humanos , Antígeno MART-1/análise , Melanócitos/patologia , Melanoma/química , Melanoma/cirurgia , Antígenos Específicos de Melanoma/análise , Melanose/patologia , Pessoa de Meia-Idade , Invasividade Neoplásica , Nevo Pigmentado/patologia , Doenças da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/química , Neoplasias da Bexiga Urinária/cirurgia
13.
Leg Med (Tokyo) ; 35: 25-28, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30243141

RESUMO

An 82-year-old man was found dead on the road near his home with unwitnessed interval of 3 h from final witness. He had been diagnosed with hypertension and mild aortic stenosis (AS) 13 years before death, and was continuously followed up with medication. Although a recent medical check-up related to cardiac function was stable and consistent with moderate AS, he sometimes complained of general fatigue, anorexia associated with intermittent mild fever and rare vomiting in the weeks before death. At autopsy, no lethal injury or drug intoxication was found, but congenital bicuspid aortic valve (BAV) with central rache was found. Although calcification was found in a restricted area of one cusp, valvular structural deformity was clearly milder than in typical severe AS cases. Moderate left ventricular hypertrophy without coronary disease was found. A brownish-red, soft nodular lesion was found in both adrenal glands, but no other tumorous focus was evident in any other organs. Immunohistochemical examination showed that B-lymphocyte-derived markers (CD20, melanoma associated antigen (mutated) 1, and CD79a) were exclusively positive. Therefore, we diagnosed primary adrenal lymphoma (PAL), diffuse large B-cell lymphoma phenotype. We concluded that the cause of sudden unexpected death (SUD) was adrenal insufficiency associated with PAL, with a background of moderate AS related to BAV.


Assuntos
Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Insuficiência Adrenal/etiologia , Biomarcadores Tumorais/análise , Morte Súbita/etiologia , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/diagnóstico , Idoso de 80 Anos ou mais , Antígenos CD20/análise , Valva Aórtica/anormalidades , Estenose da Valva Aórtica/etiologia , Autopsia , Antígenos CD79/análise , Doenças das Valvas Cardíacas/congênito , Humanos , Hipertensão/complicações , Hipertrofia Ventricular Esquerda/etiologia , Masculino , Antígenos Específicos de Melanoma/análise , Índice de Gravidade de Doença
15.
Diagn Pathol ; 13(1): 51, 2018 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-30103811

RESUMO

BACKGROUND: Melanotic Xp11 translocation renal cancer (TRC) is a newly described exceedingly rare tumor, and its characterization remains controversial. This study aimed to describe a case of distinctive melanotic Xp11 TRC and to elucidate its clinicopathological and molecular genetic features. CASE PRESENTATION: A 44-year-old Chinese female presented with a left renal mass. Abdominal ultrasonography and computed tomography (CT) scans revealed a 4.5 cm × 4.0 cm mass in the left kidney. Grossly, the well-demarcated mass was black with moderately firm consistency. Microscopic examination indicated that the tumor was characterized by the presence of nests and cords of polygonal cells with clear and granular eosinophilic cytoplasm, central round to oval nuclei and occasional nucleoli. Intracytoplasmic melanin was observed in approximately 45% of tumor cells. Uniquely, the tumor presented with intranuclear eosinophilic pseudoinclusions and thick-walled stromal blood vessels. IHC showed that tumor cells were diffusely positive for TFE3 and exhibited patchy and weak HMB45 staining. FISH confirmed the presence of TFE3 rearrangement. CONCLUSION: This case is the twentieth published case of melanotic Xp11 TRC. Moreover, the present patient had a favorable prognosis given that she was disease free at her 113-month postoperative follow-up. Our case adds to the small body of literature on these exceptionally rare tumors and widens their clinicopathological spectrum.


Assuntos
Cromossomos Humanos X , Neoplasias Renais/genética , Melaninas/análise , Translocação Genética , Adulto , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/análise , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Biópsia , Diagnóstico Diferencial , Feminino , Rearranjo Gênico , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Renais/química , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Antígenos Específicos de Melanoma/análise , Nefrectomia , Fenótipo , Valor Preditivo dos Testes , Resultado do Tratamento
16.
Indian J Pathol Microbiol ; 61(1): 94-97, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29567892

RESUMO

Lymphangioleiomyomatosis (LAM) is a rare, genetically determined, progressive interstitial lung disease, which almost exclusively affects women, especially at the childbearing age. The initial symptoms and radiographic changes in a patient with LAM are always associated with the respiratory system. Here, we present a case of mediastinal and abdominal LAM of a 22-year-old male, where LAM cells are negative for human melanoma black-45 ( HMB-45). The report of this uncharacterized LAM case will make a significant contribution to the realization of LAM associated clinical features, diagnostic approaches, and its afterward treatments.


Assuntos
Doenças Pulmonares Intersticiais/fisiopatologia , Linfangioleiomiomatose/fisiopatologia , Adulto , Humanos , Imuno-Histoquímica/métodos , Doenças Pulmonares Intersticiais/diagnóstico , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/fisiopatologia , Linfangioleiomiomatose/diagnóstico , Masculino , Antígenos Específicos de Melanoma/análise , Neoplasias Retroperitoneais/diagnóstico , Adulto Jovem
17.
Hum Pathol ; 68: 175-183, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28899738

RESUMO

Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal LN. A similar constellation of cell types constitutes various members of the perivascular epithelioid cell tumor (PEComa) family, including lymphangioleiomyomatosis (LAM), which can involve LN in women. Because some LN-LAM patients have tuberous sclerosis complex and/or other PEComa family lesions, it is clinically relevant to distinguish LN-LAM from AMH-LN. Given their similar features, however, the possibility that AMH-LN is a morphologic variant of LN-LAM merits inquiry. The dual melanocytic and myoid immunophenotype distinguishes the PEComa family from its mimics. Cathepsin K has recently emerged as a more sensitive marker for the PEComa family than HMB-45, which can be weak and focal, but cathepsin K has not been studied in AMH-LN. This study evaluated 21 AMH-LNs for clinical, morphologic, and immunophenotypic features of LN-LAM. None (0/21) had tuberous sclerosis complex or PEComas. Thirteen (62%) were male, unlike LN-LAM, which is restricted to women. All cases exhibited intraparenchymal proliferation of variable-sized, thick-walled blood vessels within collagenous stroma containing a sparse to focally cellular population of haphazardly distributed smooth muscle cells. Admixed adipocytes were commonly present. None exhibited classical features of LN-LAM such as subcapsular localization, extranodal extension, intralymphatic growth, compact nests, branching lymphatic channels, plump cell shape, or foamy/clear cytoplasm. None exhibited any staining for cathepsin K, HMB-45, or microphthalmia transcription factor. There is no clinical, morphologic, or immunohistochemical evidence to suggest that AMH-LN is a variant of LN-LAM.


Assuntos
Hamartoma/patologia , Linfonodos/patologia , Linfangioleiomiomatose/patologia , Transtornos Linfoproliferativos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Biópsia , Catepsina K/análise , Diagnóstico Diferencial , Feminino , Hamartoma/enzimologia , Humanos , Imuno-Histoquímica , Linfonodos/enzimologia , Transtornos Linfoproliferativos/enzimologia , Masculino , Antígenos Específicos de Melanoma/análise , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Adulto Jovem
19.
Mod Pathol ; 30(9): 1223-1233, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28643793

RESUMO

Sporadic lymphangioleiomyomatosis is a progressive pulmonary cystic disease resulting from the infiltration of smooth muscle-like lymphangioleiomyomatosis cells into the lung. The migratory/metastasizing properties of the lymphangioleiomyomatosis cell together with the presence of somatic mutations, primarily in the tuberous sclerosis complex gene (TSC2), lead many to consider this a low-grade malignancy. As malignant tumors characteristically accumulate somatic structural variations, which have not been well studied in sporadic lymphangioleiomyomatosis, we utilized mate pair sequencing to define structural variations within laser capture microdissected enriched lymphangioleiomyomatosis cell populations from five sporadic lymphangioleiomyomatosis patients. Lymphangioleiomyomatosis cells were confirmed in each tissue by hematoxylin eosin stain review and by HMB-45 immunohistochemistry in four cases. A mutation panel demonstrated characteristic TSC2 driver mutations in three cases. Genomic profiles demonstrated normal diploid coverage across all chromosomes, with no aneuploidy or detectable gains/losses of whole chromosomal arms typical of neoplastic diseases. However, somatic rearrangements and smaller deletions were validated in the two cases which lacked TSC2 driver mutations. Most significantly, one of these sporadic lymphangioleiomyomatosis cases contained two different size deletions encompassing the entire TSC1 locus. The detection of a homozygous deletion of TSC1 driving a predicted case of sporadic lymphangioleiomyomatosis, consistent with the common two-hit TSC2 mutation model, has never been reported for sporadic lymphangioleiomyomatosis. However, while no evidence of the hereditary tuberous sclerosis complex disease was reported for this patient, the potential for mosaicism and sub-clinical phenotype cannot be ruled out. Nevertheless, this study demonstrates that somatic structural rearrangements are present in lymphangioleiomyomatosis disease and provides a novel method of genomic characterization of sporadic lymphangioleiomyomatosis cells, aiding in defining cases with no detected mutations by conventional methodologies. These structural rearrangements could represent additional pathogenic mechanisms in sporadic lymphangioleiomyomatosis disease, potentially affecting response to therapy and adding to the complex genetic story of this rare disease.


Assuntos
Biomarcadores Tumorais/genética , Rearranjo Gênico , Neoplasias Pulmonares/genética , Linfangioleiomiomatose/genética , Proteínas Supressoras de Tumor/genética , Biomarcadores Tumorais/análise , Análise Mutacional de DNA , Deleção de Genes , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/química , Linfangioleiomiomatose/metabolismo , Antígenos Específicos de Melanoma/análise , Mutação , Fenótipo , Proteína 1 do Complexo Esclerose Tuberosa , Proteína 2 do Complexo Esclerose Tuberosa
20.
J Immunoassay Immunochem ; 38(5): 523-537, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28640738

RESUMO

There are many theories explaining vitiligo such as genetic, autoimmune, neural, free radicals, biochemical, intrinsic defect, melanocytorrhagy, and convergent theories. Phenytoin is a widely used anticonvulsant, which is used in cutaneous medicine for treatment of ulcers and epidermolysis bullosa. The aim of this study is to assess the effectiveness of topical phenytoin gel in the treatment of vitiligo patients and explaining the underlying mechanism using immunohistochemistry for evaluation of HMB45, CD4, and CD8. Only 9 patients out of 28 experienced response to phenytoin in the form of dull, white color change and light brown color. Post-phenytoin treatment biopsies showed decreased density of inflammation, increased melanin and increased HMB45 positive cells together with an increased number of CD4 positive lymphocytes and decreased number of CD8 positive lymphocytes. These observations did not reach significant level (P > 0.05). A high percentage of CD4 positive lymphocytes was significantly associated with a long duration of vitiligo (p = 0.03) and segmental vitiligo type (p = 0.02). The current study applied phenytoin as 2% concentrated gel for 3 months, which is a relatively short duration without observed side effects throughout the period. These results indicate that topical phenytoin of low concentrations may have beneficial effects through immunomodulatory activity by affecting CD4 and CD8 counts and subsequently the ratio between them. Further studies are recommended to combine phenytoin with other antivitiligo agents as local corticosteroids or phototherapy to clarify if it could potentiate their effects.


Assuntos
Fenitoína/uso terapêutico , Vitiligo/tratamento farmacológico , Adolescente , Adulto , Antígenos CD4/análise , Antígenos CD8/análise , Criança , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Masculino , Antígenos Específicos de Melanoma/análise , Pessoa de Meia-Idade , Fenitoína/administração & dosagem , Vitiligo/diagnóstico , Adulto Jovem
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