目的:报道我院收治的1例蓝色橡皮疱痣综合征(Blue rubber bleb nevus syndrome, BRBNS)患者,并结合既往文献资料进行复习,提高国内医生对BRBNS的认识。方法:总结该患者的临床表现、内镜资料,并查阅以往的文献报道,总结BRBNS的病因、发病机制、临床表现、诊断和治疗。结果:BRBNS的典型特征为皮肤及消化道多发性血管畸形,临床上主要表现为慢性隐匿性消化道出血和缺铁性贫血,还可累及全身其他器官。结论:BRBNS是一种罕见疾病,其病因可能与基因突变有关,常累及全身多脏器,现有的治疗方案不统一,临床上治疗时需充分评估病情,权衡获益与风险。
Objective: To report a case of blue rubber blister nevus syndrome (BRBNS) treated in our hospital, and review the previous literature to improve domestic doctors’ understanding of BRBNS. Methods: Summarize the patient’s clinical manifestations, endoscopic data, and consult previous literature reports to summarize the etiology, pathogenesis, clinical manifestations, diagnosis and treatment of BRBNS. Results: The typical characteristics of BRBNS are multiple vascular malformations of skin and digestive tract, and the main clinical manifestations are chronic occult gastrointestinal bleeding and iron deficiency anemia, and can also involve other organs. Conclusion: BRBNS is a rare disease, and its etiology may be related to gene mutation, often involving multiple organs. The existing treatment regimens are not unified. It is necessary to fully evaluate the condition and weigh the benefits and risks in clinical treatment.
橡皮疱痣综合征,血管瘤,消化道出血, Blue Rubber Blister Nevus Syndrome Hemangioma Gastrointestinal Bleeding摘要
Blue Rubber Blister Nevus Syndrome: A Case Report and Literature Review
Qiuyue Wang1*, Lu Feng1, Hao Li1, Shuo Zhang1, Lu Liu1, Kun Zhang1, Liangzhou Wei2#
1Medical College of Qingdao University, Qingdao Shandong
2Department of Gastroenterology, The Affiliated Hospital of Qingdao University, Qingdao Shandong
Received: Feb. 23rd, 2021; accepted: Mar. 11th, 2021; published: Mar. 30th, 2021
ABSTRACT
Objective: To report a case of blue rubber blister nevus syndrome (BRBNS) treated in our hospital, and review the previous literature to improve domestic doctors’ understanding of BRBNS. Methods: Summarize the patient’s clinical manifestations, endoscopic data, and consult previous literature reports to summarize the etiology, pathogenesis, clinical manifestations, diagnosis and treatment of BRBNS. Results: The typical characteristics of BRBNS are multiple vascular malformations of skin and digestive tract, and the main clinical manifestations are chronic occult gastrointestinal bleeding and iron deficiency anemia, and can also involve other organs. Conclusion: BRBNS is a rare disease, and its etiology may be related to gene mutation, often involving multiple organs. The existing treatment regimens are not unified. It is necessary to fully evaluate the condition and weigh the benefits and risks in clinical treatment.
2020-06-23结肠镜检查:进镜至末端回肠,粘膜未见明显异常,阑尾口半月形,回盲瓣形态未见异常。结肠肝曲、距肛门口10 cm直肠分别见2处大小约6 mm * 8 mm、5 mm * 7 mm紫蓝色隆起(图4、图5)。余所见盲肠、升结肠、横结肠、降乙状结肠及直肠粘膜光滑,粘膜下血管网清晰,肠腔收缩扩张可。
图4. 结肠脾曲
图5. 直肠
2020-06-23超声胃镜检查:食管:距门齿约34 cm见大小约20 mm * 18 mm蓝色粘膜下隆起,表面光滑;窦体交界大弯侧见直径约6 mm隆起,表面呈紫红色,可见糜烂;十二指肠降部见三处隆起,呈蓝色,表面见糜烂。EUS所见:食管隆起源于粘膜下层,成高回声改变,内部回声均匀,大小约17.5 mm * 10.3 mm (图6);胃窦体交界隆起起源于粘膜下层,呈高回声改变,内部回声均匀,大小约16.1 mm * 10.7 mm (图7);十二指肠降部隆起均起源于粘膜下层,呈高回声改变,内部回声均匀,大小分别约13.5 mm * 6.0 mm、5.7 mm * 5.0 mm (图8)。
王秋月,冯 璐,李 浩,张 硕,刘 璐,张 堃,魏良洲. 蓝色橡皮疱痣综合征1例并文献复习Blue Rubber Blister Nevus Syndrome: A Case Report and Literature Review[J]. 临床医学进展, 2021, 11(03): 1367-1373. https://doi.org/10.12677/ACM.2021.113195
参考文献References张琼, 田德安, 廖家智, 等. 蓝色橡皮泡痣综合征1例及文献分析[J]. 中国内镜杂志, 2008, 14(10): 1119-1120.杜小龙, 何松, 史洪涛, 等. 蓝色橡皮疱痣综合征1例并文献回顾[J]. 重庆医学, 2016, 45(29): 4175-4176.刘坤鹏, 李卫红, 范团起. 蓝色橡皮疱痣综合征[J]. 临床皮肤科杂志, 2015, 44(9): 580-581.Jin, X.L., Wang, Z.H., Xiao, X.B., et al. (2014) Blue Rubber Bleb Nevus Syndrome: A Case Report and Literature Review. World Journal of Gastroenterology, 20, 17254-17259. <br>https://doi.org/10.3748/wjg.v20.i45.17254Domini, M., Aquino, A., Fakhro, A., et al. (2002) Blue Rubber Bleb Nevus Syndrome and Gastrointestinal Haemorrhage: Which Treatment? European Journal of Pediatric Surgery, 12, 129-133. <br>https://doi.org/10.1055/s-2002-30172Choi, K.K., Kim, J.Y., Kim, M.J., et al. (2012) Radical Resection of Intestinal Blue Rubber Bleb Nevus Syndrome. Journal of the Korean Surgical Society, 83, 316-320. <br>https://doi.org/10.4174/jkss.2012.83.5.316Nobuhara, Y., Onoda, N., Fukai, K., et al. (2006) TIE2 Gain-of-Function Mutation in a Patient with Pancreatic Lymphangioma Associated with Blue Rubber-Bleb Nevus Syndrome: Report of a Case. Surgery Today, 36, 283-286.
<br>https://doi.org/10.1007/s00595-005-3138-9Soblet, J., Kangas, J., Nätynki, M., et al. (2017) Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. Journal of Investigative Dermatology, 137, 207-216. <br>https://doi.org/10.1016/j.jid.2016.07.034Mogler, C., Beck, C., Kulozik, A., et al. (2010) Elevated Expression of c-Kit in Small Venous Malformations of Blue Rubber Bleb Nevus Syndrome. Rare Tumors, 2, 99-100. <br>https://doi.org/10.4081/rt.2010.e36刘坤鹏, 李卫红, 范团起. 蓝色橡皮疱痣综合征[J]. 临床皮肤科杂志, 2015, 44(9): 580-581.Hu, Z., Lin, X., Zhong, J., et al. (2020) Blue Rubber Bleb Nevus Syndrome with the Complication of Intussusception: A Case Report and Literature Review. Medicine (Baltimore), 99, e21199.
<br>https://doi.org/10.1097/MD.0000000000021199Anwár, G., Elma, P.A., Adib, J.S., et al. (2020) Blue Rubber Bleb Nevus Syndrome with Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review. Frontiers in Neurology, 11, No. 176.
<br>https://doi.org/10.3389/fneur.2020.00176Aussedat, P.H., Laroumagne, S., Dutau, H. and Astoul, P. (2018) Blue Rubber Bleb Naevus Syndrome Involving the Pleura. Revue des Maladies Respiratoires, 35, 333-337. <br>https://doi.org/10.1016/j.rmr.2017.06.006Petek, B. and Jones, R.L. (2014) The Management of Ophthalmic Involvement in Blue Rubber Bleb Nevus Syndrome. GMS Ophthalmology Cases, 4, Doc04.Gilbey, L.K. and Girod, C.E. (2003) Blue Rubber Bleb Nevus Syndrome: Endobronchial Involvement Presenting as Chronic Cough. Chest, 124, 760-763. <br>https://doi.org/10.1378/chest.124.2.760Apak, H., Celkan, T., Ozkan, A., et al. (2004) Blue Rubber Bleb Nevus Syndrome Associated with Consumption Coagulopathy: Treatment with Interferon. Dermatology, 208, 345-348. <br>https://doi.org/10.1159/000077846Yuksekkaya, H., Ozbek, O., Keser, M. and Toy, H. (2012) Blue Rubber Bleb Nevus Syndrome: Successful Treatment with Sirolimus. Pediatrics, 129, e1080-e1084. <br>https://doi.org/10.1542/peds.2010-3611Kunishige, M., Azuma, H., Masuda, K., et al. (1997) Interferon Alpha-2a Therapy for Disseminated Intravascular Coagulation in a Patient with Blue Rubber Bleb Nevus Syndrome. A Case Report. Angiology, 48, 273-277.
<br>https://doi.org/10.1177/000331979704800312Quan, X., Xu, C.D., Liu, P., et al. (2020) Clinical Effect of Sirolimus in Treatment of Blue Rubber Bleb Nevus Syndrome in Children: A Report of 2 Cases and Literature Review. Zhongguo Dang Dai Er Ke Za Zhi, 22, 1011-1016.Salloum, R., Fox, C.E., Alvarez-Allende, C.R., et al. (2016) Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment. Pediatric Blood & Cancer, 63, 1911-1914. <br>https://doi.org/10.1002/pbc.26049