title: Blue rubber bleb nevus syndrome: a case report and literature review.
abstract: 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 16 sites 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.
authors.affiliation: Xue-Li Jin, Xi-Bin Xiao, Lian-Sheng Huang, Xiao-Ying Zhao, Department of Hematology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Xue-Li
authors.initials: XL
authors.lastname: Jin
authors.affiliation: Xue-Li Jin, Xi-Bin Xiao, Lian-Sheng Huang, Xiao-Ying Zhao, Department of Hematology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Zhao-Hong
authors.initials: ZH
authors.lastname: Wang
authors.affiliation: Xue-Li Jin, Xi-Bin Xiao, Lian-Sheng Huang, Xiao-Ying Zhao, Department of Hematology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Xi-Bin
authors.initials: XB
authors.lastname: Xiao
authors.affiliation: Xue-Li Jin, Xi-Bin Xiao, Lian-Sheng Huang, Xiao-Ying Zhao, Department of Hematology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Lian-Sheng
authors.initials: LS
authors.lastname: Huang
authors.affiliation: Xue-Li Jin, Xi-Bin Xiao, Lian-Sheng Huang, Xiao-Ying Zhao, Department of Hematology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Xiao-Ying
authors.initials: XY
authors.lastname: Zhao
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D001803:Blood Transfusion; D003937:Diagnosis, Differential; D016099:Endoscopy, Gastrointestinal; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D005770:Gastrointestinal Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D006397:Hematinics / Q000627:therapeutic use; D006801:Humans; D007501:Iron / Q000627:therapeutic use; D008875:Middle Aged; D018329:Nevus, Blue / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D011237:Predictive Value of Tests; D011379:Prognosis; D012878:Skin Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D014057:Tomography, X-Ray Computed
chemical_list: D006397:Hematinics; D007501:Iron
keywords: Anemia; Blue rubber bleb nevus syndrome; Gastrointestinal bleeding; Hemangioma; Vascular malformations