BACKGROUND Blue rubber blister nevus syndrome(BRBNS)is a congenital,rare disease charac-terized by venous malformations of the skin and internal organs,affecting all systems throughout the body.The pathogenesis is unk...BACKGROUND Blue rubber blister nevus syndrome(BRBNS)is a congenital,rare disease charac-terized by venous malformations of the skin and internal organs,affecting all systems throughout the body.The pathogenesis is unknown.There is no con-sensus on the treatment of BRBNS.Most of the previously reported cases were mild to moderate with a good prognosis,and this case was a critically ill patient with severe gastrointestinal hemorrhage,disseminated intravascular coagulation(DIC),and severe joint fusion that was different from previously reported cases.CASE SUMMARY An 18-year-old man with early onset of BRBNS in early childhood is reported.He presented with recurrent melena and underwent malformed phlebectomy and partial jejunectomy and ileal resection.The patient had melena before and after surgery.After active treatment,the patient's gastrointestinal bleeding improved.This was a case of atypical BRBNS with severe gastrointestinal bleeding and severe joint fusion,which should be differentiated from other serious joint lesions and provide clinicians with better understanding of this rare disease.CONCLUSION This case of critical BRBNS with gastrointestinal hemorrhage,DIC and severe joint fusion provides further understanding of this rare disease.展开更多
Blue rubber bleb nevus syndrome(BRBNS)is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs.The lesions often involve the cutaneous and gastrointestinal syste...Blue rubber bleb nevus syndrome(BRBNS)is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs.The lesions often involve the cutaneous and gastrointestinal systems.Other organs can also be involved,such as the central nervous system,liver,and muscles.The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia.The syndrome may also present with severe complications such as rupture,intestinal torsion,and intussusception,and can even cause death.Cutaneous malformations are usually asymptomatic and do not require treatment.The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease.Most patients respond to supportive therapy,such as iron supplementation and blood transfusion.For more significant hemorrhages or severe complications,surgical resection,endoscopic sclerosis,and laser photocoagulation have been proposed.Here we present a case of BRBNS in a 45-year-old woman involving 16sites including the scalp,eyelid,orbit,lip,tongue,face,back,upper and lower limbs,buttocks,root of neck,clavicle area,superior mediastinum,glottis,esophagus,colon,and anus,with secondary severe anemia.In addition,we summarize the epidemiology,clinical manifestations,diagnosis,differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.展开更多
A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome(BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestina...A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome(BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal(GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injectionneedle to reduce the pressure within it. Finally, argon plasma coagulation(APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic the rapy, the eso phage alulcerhealed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.展开更多
BACKGROUND Blue rubber bleb nevus syndrome(BRBNS)is a rare vascular disease,difficult to diagnose and choose a treatment method,especially in young children.There are several limiting factors to the use of enteroscopy...BACKGROUND Blue rubber bleb nevus syndrome(BRBNS)is a rare vascular disease,difficult to diagnose and choose a treatment method,especially in young children.There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients,in general.The literature on BRBNS cases is limited and presents various therapeutic approaches.CASE SUMMARY We present here a case of BRBNS involving a 4-year-old female,whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam.Skin lesions,typical for BRBNS,appeared on the 8th d of the child’s life and their number increased over the next several months.The child also experienced episodes of critical decrease in hemoglobin level(by as much as 52 g/L)for several years,requiring iron supplementation and several blood transfusions.Video capsule endoscopy revealed numerous vascular formations in the small bowel.The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis.Single-balloon enteroscopy was used to perform sclerotherapy,with aethoxysklerol foam.A positive effect was observed within 19 mo of follow-up.We continue to monitor the patient’s hemoglobin level,every 2 wk,and it has remained satisfactory(>120 g/L).CONCLUSION Endoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children.展开更多
BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always ...BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia.The successful management of BRBNS with sirolimus had been reported in many institutions,due to its impact on signaling pathways of angiogenesis.However,the experience in treatment of neonates with BRBNS was limited.CASE SUMMARY A 38-day-old premature female infant born with multiple skin lesions,presented to our center complaining of severe anemia and hematochezia.Laboratory examination demonstrated that hemoglobin was 5.3 g/dL and contrast-enhanced abdominal computed tomography showed multiple low-density space-occupying lesions in the right lobe of the liver.She was diagnosed as having BRBNS based on typical clinical and examination findings.The patient was treated by transfusions twice and hemostatic drugs but symptoms of anemia were difficult to alleviate.A review of BRBNS case reports found that patients had been successfully treated with sirolimus.Then the patient was treated with sirolimus at an average dose of 0.95 mg/m2/d with a target drug level of 10-15 ng/mL.During 28 mo of treatment,the lesion was reduced,hemoglobin returned to normal,and there were no adverse drug reactions.CONCLUSION This case highlights the dosing regimen and plasma concentration in neonates,for the current common empiric dose is high.展开更多
Blue rubber bleb nevus syndrome （BRBNS）, or Bean＇s syndrome, is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointest...Blue rubber bleb nevus syndrome （BRBNS）, or Bean＇s syndrome, is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes. Other organs may also be involved. We report a case with symptoms of recurrent epistaxis and chronic gastrointestinal hemorrhage. We hope to emphasize the possibility of recurrent epistaxis involvement in BRBNS and heighten physicians＇ awareness of the disease to contribute its early detection.展开更多
To the Editor:Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular disorder characterized by multiple venous malformations involving many organs.BRBNS can occur in various organs,but the most frequently...To the Editor:Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular disorder characterized by multiple venous malformations involving many organs.BRBNS can occur in various organs,but the most frequently involved organs are the skin and gastrointestinal tract.Gastrointestinal lesions of BRBNS can cause acute or chronic bleeding and anemia.[1] Only several case reports of pregnant women with BRBNS could be found in the current database and most of them were complicated by hemorrhage of the gastrointestinal tract.We report a case of BRBNS during pregnancy that suffered from severe pulmonary embolism (PE) and was successfully resuscitated.展开更多
Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations. The malformations are most prominent in the skin, soft tissues, gastrointestinal tract, and, less...Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations. The malformations are most prominent in the skin, soft tissues, gastrointestinal tract, and, less often, in other internal organs. A patient may have from several to hundreds of hemangiomas and treatment of BRBNS is mainly symptomatic. We report a unique case of BRBNS typically with skin hemangiomas, iron deficiency anemia and an episode of internal hemorrhage in such a patient, who was treated effectively by Chinese herbal medicine without any complication.展开更多
文摘BACKGROUND Blue rubber blister nevus syndrome(BRBNS)is a congenital,rare disease charac-terized by venous malformations of the skin and internal organs,affecting all systems throughout the body.The pathogenesis is unknown.There is no con-sensus on the treatment of BRBNS.Most of the previously reported cases were mild to moderate with a good prognosis,and this case was a critically ill patient with severe gastrointestinal hemorrhage,disseminated intravascular coagulation(DIC),and severe joint fusion that was different from previously reported cases.CASE SUMMARY An 18-year-old man with early onset of BRBNS in early childhood is reported.He presented with recurrent melena and underwent malformed phlebectomy and partial jejunectomy and ileal resection.The patient had melena before and after surgery.After active treatment,the patient's gastrointestinal bleeding improved.This was a case of atypical BRBNS with severe gastrointestinal bleeding and severe joint fusion,which should be differentiated from other serious joint lesions and provide clinicians with better understanding of this rare disease.CONCLUSION This case of critical BRBNS with gastrointestinal hemorrhage,DIC and severe joint fusion provides further understanding of this rare disease.
文摘Blue rubber bleb nevus syndrome(BRBNS)is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs.The lesions often involve the cutaneous and gastrointestinal systems.Other organs can also be involved,such as the central nervous system,liver,and muscles.The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia.The syndrome may also present with severe complications such as rupture,intestinal torsion,and intussusception,and can even cause death.Cutaneous malformations are usually asymptomatic and do not require treatment.The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease.Most patients respond to supportive therapy,such as iron supplementation and blood transfusion.For more significant hemorrhages or severe complications,surgical resection,endoscopic sclerosis,and laser photocoagulation have been proposed.Here we present a case of BRBNS in a 45-year-old woman involving 16sites including the scalp,eyelid,orbit,lip,tongue,face,back,upper and lower limbs,buttocks,root of neck,clavicle area,superior mediastinum,glottis,esophagus,colon,and anus,with secondary severe anemia.In addition,we summarize the epidemiology,clinical manifestations,diagnosis,differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.
文摘A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome(BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal(GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injectionneedle to reduce the pressure within it. Finally, argon plasma coagulation(APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic the rapy, the eso phage alulcerhealed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.
文摘BACKGROUND Blue rubber bleb nevus syndrome(BRBNS)is a rare vascular disease,difficult to diagnose and choose a treatment method,especially in young children.There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients,in general.The literature on BRBNS cases is limited and presents various therapeutic approaches.CASE SUMMARY We present here a case of BRBNS involving a 4-year-old female,whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam.Skin lesions,typical for BRBNS,appeared on the 8th d of the child’s life and their number increased over the next several months.The child also experienced episodes of critical decrease in hemoglobin level(by as much as 52 g/L)for several years,requiring iron supplementation and several blood transfusions.Video capsule endoscopy revealed numerous vascular formations in the small bowel.The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis.Single-balloon enteroscopy was used to perform sclerotherapy,with aethoxysklerol foam.A positive effect was observed within 19 mo of follow-up.We continue to monitor the patient’s hemoglobin level,every 2 wk,and it has remained satisfactory(>120 g/L).CONCLUSION Endoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children.
文摘BACKGROUND Blue rubber bleb naevus syndrome(BRBNS)is a rare disease that usually presents with multiple venous malformations in the skin and gastrointestinal tract.Lesions located in the gastrointestinal tract always result in chronic gastrointestinal bleeding and severe anemia.The successful management of BRBNS with sirolimus had been reported in many institutions,due to its impact on signaling pathways of angiogenesis.However,the experience in treatment of neonates with BRBNS was limited.CASE SUMMARY A 38-day-old premature female infant born with multiple skin lesions,presented to our center complaining of severe anemia and hematochezia.Laboratory examination demonstrated that hemoglobin was 5.3 g/dL and contrast-enhanced abdominal computed tomography showed multiple low-density space-occupying lesions in the right lobe of the liver.She was diagnosed as having BRBNS based on typical clinical and examination findings.The patient was treated by transfusions twice and hemostatic drugs but symptoms of anemia were difficult to alleviate.A review of BRBNS case reports found that patients had been successfully treated with sirolimus.Then the patient was treated with sirolimus at an average dose of 0.95 mg/m2/d with a target drug level of 10-15 ng/mL.During 28 mo of treatment,the lesion was reduced,hemoglobin returned to normal,and there were no adverse drug reactions.CONCLUSION This case highlights the dosing regimen and plasma concentration in neonates,for the current common empiric dose is high.
文摘Blue rubber bleb nevus syndrome （BRBNS）, or Bean＇s syndrome, is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes. Other organs may also be involved. We report a case with symptoms of recurrent epistaxis and chronic gastrointestinal hemorrhage. We hope to emphasize the possibility of recurrent epistaxis involvement in BRBNS and heighten physicians＇ awareness of the disease to contribute its early detection.
文摘To the Editor:Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular disorder characterized by multiple venous malformations involving many organs.BRBNS can occur in various organs,but the most frequently involved organs are the skin and gastrointestinal tract.Gastrointestinal lesions of BRBNS can cause acute or chronic bleeding and anemia.[1] Only several case reports of pregnant women with BRBNS could be found in the current database and most of them were complicated by hemorrhage of the gastrointestinal tract.We report a case of BRBNS during pregnancy that suffered from severe pulmonary embolism (PE) and was successfully resuscitated.
文摘Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations. The malformations are most prominent in the skin, soft tissues, gastrointestinal tract, and, less often, in other internal organs. A patient may have from several to hundreds of hemangiomas and treatment of BRBNS is mainly symptomatic. We report a unique case of BRBNS typically with skin hemangiomas, iron deficiency anemia and an episode of internal hemorrhage in such a patient, who was treated effectively by Chinese herbal medicine without any complication.
基金Supported by Science and Technology Planning Project of Guangdong Province(2014A020212181)by the President Foundation of Nanfang Hospital(2013C021)~~
