RESUMO
Porokeratotic adnexal ostial nevus (PAON) is a rare adnexal hamartoma characterized by keratotic papules following Blaschko's lines, typically located on the unilateral distal extremities. Cutaneous somatic GJB2 mutations have been linked to the pathogenesis of PAON. However, the genetic mechanism underlying bilateral or extended forms, which are less documented, remains unknown. In this study, we presented two cases of PAON with widespread cutaneous lesions and scalp involvement, and demonstrated the presence of GJB2 mosaic mutations in both patients. We further investigated the mosaic frequency in different tissues to gain insights into the mutation events contributing to the phenotype of widespread PAON. Our findings suggest that early postzygotic mutation causing mosaic GJB2 mutations may contribute to the widespread phenotype of PAON, thereby enriching the disease spectrum and mutation profile of PAON.
Assuntos
Conexina 26 , Mosaicismo , Mutação , Poroceratose , Neoplasias Cutâneas , Humanos , Conexina 26/genética , Feminino , Poroceratose/genética , Poroceratose/patologia , Poroceratose/diagnóstico , Masculino , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Conexinas/genética , Couro Cabeludo/patologia , Nevo/genética , Nevo/patologia , Nevo/diagnóstico , Pele/patologia , Fenótipo , AdultoRESUMO
Hidradenocarcinoma is a rare malignancy of sweat gland differentiation. It is known for its high rate of recurrence and metastasis, which has a serious impact on human health and aesthetics. However, the treatment options for this disease are limited, making prompt and appropriate treatment is a daunting challenge. In this report, we present the first successful cure of hidradenocarcinoma using 5-aminolevulinic acid photodynamic therapy (ALA-PDT) combined with local narrow margin excision on the left side of the forehead in an elderly woman. No recurrence during one year of follow-up after the combined therapy. This case will provide a valuable reference for more efficient management of similar cases in clinic.
Assuntos
Adenocarcinoma de Células Claras , Fotoquimioterapia , Feminino , Humanos , Idoso , Ácido Aminolevulínico/uso terapêutico , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/uso terapêutico , Adenocarcinoma de Células Claras/tratamento farmacológicoRESUMO
OBJECTIVE: To report clinical results of non-Descemet stripping automated endothelial keratoplasty (nDSAEK) to treat graft failure after penetrating keratoplasty. METHODS: It was a retrospective case series study. Five cases of grafts failure after penetrating keratoplasty (PKP) were enrolled in this study. All patients had a cloudy and swollen grafts, which thicker than 620 µm, and had foreign body sensation, vision decrease. Of this 5 cases, 4 of them are pseudophakic eye, 1 is aphakic eye. One patient had previous vitrectomy, and 3 of them had one time history of PKP, 2 of them had twice PKP treatment. All cases were treated by nDSAEK, the nDSAEK grafts were prepared as a 200 µm thickness and 8.00 to 8.75 mm in diameter by using hand or femtosecond laser assisted methods. The graft was inserted by forceps or suture pulling method through a 5.00 mm scleral tunel incision. RESULTS: One graft dislocated at 1day postoperation, and was reattached by rebuble. All grafts keep clear during 8 - 28 months follow up period, and no immune rejection episodes were noted. The endothelial density were 865 to 2410/mm(2). Postoperative best corrected vision (pBCVA) are better or equal to previous BCVA after pkp. CONCLUSION: nDSAEK appears a good alternative surgical method for patients of grafts failure after pkp, especially for high risk patients of immune rejection.
Assuntos
Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Sobrevivência de Enxerto , Ceratoplastia Penetrante , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reoperação , Estudos Retrospectivos , Falha de Tratamento , Resultado do TratamentoRESUMO
OBJECTIVE: D-dimer and C-reactive protein are of diagnostic and predictive values in patients have thrombotic tendency, such as vascular thrombosis, coronary artery disease and aortic dissection. However, the comparative study in these biomarkers between the patients with acute aortic dissection and coronary artery disease has not been sufficiently elucidated. METHODS: Consecutive surgical patients for acute type A aortic dissection (20 patients), aortic aneurysm (nine patients) or coronary artery disease (20 patients) were selected into this study. Plasma from preoperative blood samples and supernatant of aortic homogenate of the surgical specimens were detected for D-dimer and hypersensitive C-reactive protein (hs-CRP). RESULTS: Plasma D-dimer and hs-CRP values in type A aortic dissection or aortic aneurysm were much higher than in coronary artery disease patients or the healthy control (for D-dimer, aortic dissection: coronary artery disease, 0.4344 ± 0.2958 µg/ml vs. 0.0512 ± 0.0845 µg/ml, P < 0.0001; aortic dissection: healthy control, 0.4344 ± 0.2958 µg/ml vs. 0.1250 ± 0.1295 µg/ml, P = 0.0005; aortic aneurysm: coronary artery disease, 0.4200 ± 0.4039 µg/ml vs. 0.0512 ± 0.0845 µg/ml, P = 0.0013; and aortic aneurysm: healthy control, 0.4200 ± 0.4039 µg/ml vs. 0.1250 ± 0.1295 µg/ml, P = 0.0068; and for hs-CRP, aortic dissection: coronary artery disease, 4.400± 3.004 mg/L vs. 1.232±0.601 mg/L, P < 0.0001; aortic dissection:healthy control, 4.400 ± 3.004 mg/L vs. 0.790 ± 0.423 mg/L, P < 0.0001; aortic aneurysm: coronary artery disease, 2.314 ± 1.399 mg/L vs. 1.232 ± 0.601 mg/L, P = 0.0084; aortic aneurysm: healthy control, 2.314 ± 1.399 mg/L vs. 0.790 ± 0.423 mg/L, P = 0.0002; and coronary artery disease: healthy control, 1.232 ± 0.601 mg/L vs. 0.790 ± 0.423 mg/L, P = 0.0113). Besides, there were close correlations between plasma D-dimer and hs-CRP in overall (Y = 4.8798X + 0.8138, r² = 0.4497, r = 0.671, P < 0.001), aortic dissection (Y = 2.6298X + 1.2098, r² = 0.5762, r = 0.759, P < 0.001), and aortic aneurysm (Y = 7.1341X + 1.3006, r² = 0.4935, r = 0.7025, P = 0.048) groups rather than in the coronary artery disease or healthy control subjects. In addition, there were no significant differences between D-dimer and hs-CRP values of the aortic supernatant among groups except for undetectable D-dimer in the aortic supernatant of the coronary artery disease group. CONCLUSIONS: The patients with acute aortic dissection and aortic aneurysm may reflect the extensive inflammatory reaction and severe coagulopathies in the patients with acute type A aortic dissection, and thoracic aortic aneurysm in comparison to the coronary patients and healthy control individuals. The detections after onset in the patients with acute chest pain may help making a differential diagnosis between the aortopathies and ischemic heart disease. The scanty significance of the tissue biomarkers may preclude their diagnostic value in clinical practice.
Assuntos
Aneurisma Aórtico/sangue , Dissecção Aórtica/sangue , Transtornos da Coagulação Sanguínea/diagnóstico , Proteína C-Reativa/análise , Doença da Artéria Coronariana/sangue , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Dissecção Aórtica/diagnóstico , Aneurisma Aórtico/diagnóstico , Biomarcadores/sangue , Estudos de Casos e Controles , Diagnóstico Diferencial , Humanos , Isquemia Miocárdica/diagnósticoRESUMO
OBJECTIVE: D-dimer and C-reactive protein are of diagnostic and predictive values in patients have thrombotic tendency, such as vascular thrombosis, coronary artery disease and aortic dissection. However, the comparative study in these biomarkers between the patients with acute aortic dissection and coronary artery disease has not been sufficiently elucidated. METHODS: Consecutive surgical patients for acute type A aortic dissection (20 patients), aortic aneurysm (nine patients) or coronary artery disease (20 patients) were selected into this study. Plasma from preoperative blood samples and supernatant of aortic homogenate of the surgical specimens were detected for D-dimer and hypersensitive C-reactive protein (hs-CRP). RESULTS: Plasma D-dimer and hs-CRP values in type A aortic dissection or aortic aneurysm were much higher than in coronary artery disease patients or the healthy control (for D-dimer, aortic dissection: coronary artery disease, 0.4344 ± 0.2958 µg/ml vs. 0.0512 ± 0.0845 µg/ml, P < 0.0001; aortic dissection: healthy control, 0.4344 ± 0.2958 µg/ml vs. 0.1250 ± 0.1295 µg/ml, P = 0.0005; aortic aneurysm: coronary artery disease, 0.4200 ± 0.4039 µg/ml vs. 0.0512 ± 0.0845 µg/ml, P = 0.0013; and aortic aneurysm: healthy control, 0.4200 ± 0.4039 µg/ml vs. 0.1250 ± 0.1295 µg/ml, P = 0.0068; and for hs-CRP, aortic dissection: coronary artery disease, 4.400± 3.004 mg/L vs. 1.232±0.601 mg/L, P < 0.0001; aortic dissection:healthy control, 4.400 ± 3.004 mg/L vs. 0.790 ± 0.423 mg/L, P < 0.0001; aortic aneurysm: coronary artery disease, 2.314 ± 1.399 mg/L vs. 1.232 ± 0.601 mg/L, P = 0.0084; aortic aneurysm: healthy control, 2.314 ± 1.399 mg/L vs. 0.790 ± 0.423 mg/L, P = 0.0002; and coronary artery disease: healthy control, 1.232 ± 0.601 mg/L vs. 0.790 ± 0.423 mg/L, P = 0.0113). Besides, there were close correlations between plasma D-dimer and hs-CRP in overall (Y = 4.8798X + 0.8138, r² = 0.4497, r = 0.671, P < 0.001), aortic dissection ...
OBJETIVO: D-dímero e proteína C reativa são de valores de diagnóstico e preditivo em pacientes com tendência trombótica, como a trombose vascular, doença arterial coronária e dissecção aórtica. No entanto, o estudo comparativo desses biomarcadores entre os pacientes com dissecção aguda da aorta e doença arterial coronariana não foi suficientemente esclarecido. MÉTODOS: Pacientes cirúrgicos consecutivos foram selecionados para este estudo por tipo de dissecção aguda aórtica (20 pacientes), aneurisma da aorta (9 pacientes) ou doença arterial coronária (20 pacientes). O plasma a partir de amostras de sangue no pré-operatório e sobrenadante de homogenato de aorta dos espécimes cirúrgicos foi detectado para o D-dímero e proteína C reativa hipersensível. RESULTADOS: Os valores do plasma de D-dímero e proteína-C reativa em dissecção aórtica tipo A ou aneurisma da aorta foram muito superiores em pacientes com doença arterial coronariana ou de controles saudáveis (pelo D-dímero, dissecção aórtica: doença arterial coronariana, 0,4344 ± 0,2958 µg/ml vs 0,0512 ± 0,0845 µg/ml, P <0,0001; dissecção aórtica: controle saudável, 0,4344 ± 0,2958 µg/ml vs 0,1250 ± 0,1295 µg/ml, P = 0,0005; aneurisma da aorta: doença arterial coronariana, 0,4200 ± 0,4039 µg/ml vs 0,0512 ± 0,0845 µg/ml, P = 0,0013; e aneurisma de aorta: controle saudável, 0,4200 ± 0,4039 µg/ml vs. 0,1250 ± 0,1295 µg/ml, P = 0,0068 e para a hs-CRP, dissecção aórtica: doença arterial coronariana, 4,400 ± 3,004 mg/L vs. 1,232 ± 0,601 mg/L, P <0,0001; dissecção aórtica: grupo controle saudável, 4,400 ± 3,004 mg/L vs 0,790 ± 0,423 mg/L, P <0,0001; aneurisma da aorta: doença arterial coronariana, 2,314 ± 1,399 mg/L vs. 1,232 ± 0,601 mg/L, P = 0,0084; aneurisma da aorta: grupo controle saudável, 2,314 ± 1,399 mg/L vs. 0,790 ± 0,423 mg/L, P = 0,0002; e doença arterial coronariana: grupo controle saudável, 1,232 ± 0,601 mg/L versus 0,790 ± 0,423 mg/L, P = 0,0113). Além disso, houve correlações próximas ...