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Objective:To summarize the clinical data and imaging characteristics of patients with PHACES syndrome treated with oral Propranolol.Methods:The clinical data of 4 cases of PHACES syndrome treated with oral Propranolol in Children′s Hospital, Capital Institute of Pediatrics from October 2018 to October 2022 were retrospectively analyzed.Relevant studies reporting the treatment of PHACES with Propranolol were retrieved in PubMed, China National Knowledge Infrastructure (CNKI) and Wanfang Data.Results:Three cases of the 4 patients with PHACES syndrome treated with Propranolol obtained relieved symptoms of facial hemangioma, and 1 case died due to late treatment, complication of severe cardiovascular malformation, and treatment abandonment by parents.A total of 7 clinical studies on the use of Propranolol in the treatment of PHACES were retrieved, including 6 retrospective studies and 1 observational study.Most studies have shown that Propranolol is well tolerated in the treatment of PHACES syndrome, and most of cases have relieved facial hemangioma.The main factors affecting the prognosis are the degree of damage to middle and small arteries such at brain, aorta, chest and neck.Propranolol treatment can improve the prognosis.Conclusions:Oral Propranolol is currently the first-line treatment for PHACES syndrome, and most patients tolerate oral Propranolol well.
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Objective@#To analyze the clinical value of sirolimus plus prednisone for the treatment of the refractory kaposiform hemangioendothelioma(RKHE) and Kasabach-Merritt syndrome(KMS).@*Method@#Clinical retrospective analysis was carried out for 10 patients recruited in Children′s Hospital Affiliated to Capital Institute of Paediatrics from January 2014 to January 2017 who were non responders to or relapsers after the treatment of propranolol, prednisone, pingyangmycin and lauromacrogol(5 cases RKHE, 5 cases RKHE plus KMS, age ranged from 6 days to 9 years); patients were treated with sirolimus at the dosage of 0.035 ml/(kg·d), once a day, for 6-410 days; the diagnosis of 10 patients were confirmed by pathological biopsy and immunohistochemical examination(IHC); the difference of the coagulation parameters and the platelet counts, the size of tumor and ecchymosis at different stages of treatment were recorded and measured by scale and ultrasonography; the side effects of sirolimus were recorded as well.@*Result@#Clinical characteristics of 10 cases (6 male and 4 female) RKHE with KMS were refractory dark red hard hemangioma or ecchymosis, the platelet counts were lower than 30.0×109/L, (15±7)×109/L, coagulation tests were obviously abnormal, fibrinogens were significantly decreased(0.8±0.5)g/L, the fibrin lysates and D-dimer were significantly increased(100±23)mg/L, (10 000±2 200)ng/L, the prothrombin time and activated partial thromboplastin time were prolonged(25.0±2.1)s, (58.0±3.4)s. The pathologic characteristics of the tumors were similar: spindle tumor cells, mass distribution and deeply stained nuclei tumor cells. IHC revealed positive staining for D2-40, CD31 and CD34. Stainings for factor Ⅷ and GLUT-1 were negative. In five cases RKHE plus KMS were treated with sirolimus and prednisone, after (6.5±0.7) days treatment, the platelet counts were obviously increased(72.0±0.6)×109/L, coagulation parameters were obviously improved, fibrinogen significantly increased(1.5±0.2)g/L, the fibrinlysates and D-dimer significantly decreased(7±3)mg/L, (2 300±200)ng/L, the prothrombin time and activated partial thromboplastin time were prolonged(15±2.3)s, (42±3.4) s, and the sizes of tumor and ecchymosis were slightly shrunken 18%±3%, 38%±5%; after (30±5.7) days treatment, the platelet counts and coagulation parameters returned to normal(146±36)×109/L, and the size of tumor and ecchymosis were obviously shrunken 73%±3%, 97%±3%; after (3±0.4) months treatment, the tumor was obviously shrunken by 93%±2% and no longer palpable. In five cases with RKHE without KMS manifested stubborn dark red hard hemangiomatous plaques, coagulation tests and platelet were obviously normal, these patients were treated with sirolimus, after (2.0±0.6) months treatment, the tumor became shrunken 8%±3%, with continuous treatment the tumor shrunk gradually, after (4.0±3.2)months(2-18 mouths) the tumor was not eliminated 51%±7%.@*Conclusion@#RKHE and KMS have typical clinical, laboratory and pathological characteristics, sirolimus plus prednisone have remarkable efficacy and minor side effects, it should be recommended for the treatment of KHE with KMS.
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Objective To estimate the value of detection of Merkel cell carcinoma polyomavirus (MCPyV)in the diagnosis of Merkel cell carcinoma (MCC).Methods Two cases of MCC were studied using light microscopy and immunohistochemistry.PCR was performed to detect DNA sequences encoding MCPyV large T antigen(LT)and viral protein 1 (VP1) in paraffin-embedded tissue specimens from the two patients with MCC,five patients with T cell lymphoma,two normal human controls,as well as in two T cell lymphoma cell lines MAC 1 and MAC2.DNA sequencing was also carried out.Results Both of the patients with MCC were male.The patient 1 presented with a mass in the right anterior shin for more than one year,and the patient 2 had a mass in the left knee for more than six months.Skin examination revealed densely distributed pink nodules in the right anterior shin,with confluence into an indurated plaque which measured 10 cm × 8 cm with superficial erosion,exudates and crusts and was surrounded by multiple irregularly sized erythematous nodules with limited mobility in the patient 1,as well as a royal blue,hard,poorly marginated nodular mass measuring 5 cm × 4 cm in the left medial knee with limited mobility in the patient 2.Pathological manifestations were similar in the two patients.Tumor cells were uniform with large hyperchromatic nuclei,eosinophilic and sparse cytoplasm,and fine chromatin.Mitotic figures were easily seen.Immunohistochemistry revealed that the tumor cells stained positive for pan-cytokeratin,synuclein (Syn),neuron-specific enolase (NSE),chromogranin (CgA),CK20,and Ki-67 (＞ or =60％),but negative for S100 protein,HMB45,CD34,thyroid transcription factor 1 (TTT-1),CK7 and leukocyte common antigen (LCA).MCPyV DNA was detected in both MCC specimens,but absent in the other skin specimens or T cell lymphoma cell lines.Conclusions MCC has distinctive clinical and pathological appearance.Immunohistochemistry and detection of MCPyV DNA sequences using PCR may be beneficial to the definitive diagnosis of MCC.