Treatment options for gastrointestinal bleeding blue rubber bleb nevus syndrome: Systematic review.

OBJECTIVES: Blue rubber bleb nevus syndrome (BRBNS) is a rare challenging cause of gastrointestinal bleeding. We performed a systematic review of case reports and case series on BRBNS to gather information on the treatment options currently available. METHODS: All studies reporting a case of BRBNS in humans were evaluated. Papers were ruled out if CARE criteria and explanations on patient's selection, ascertainment, causality, and reporting were not respected or identified. PROSPERO 2021 CRD 42021286982. RESULTS: Blue rubber bleb nevus syndrome was treated in 106 cases from 76 reports. 57.5% of the population was under 18 years old, and up to 50% of the cases reported a previous treatment. Clinical success was achieved in 98 patients (92.4%). Three main types of interventions were identified: systemic drug therapy, endoscopy, and surgery. After BRBNS recurrence or previous therapy failure, systemic drug therapy emerged as a preferred second-line treatment over endoscopy (P = 0.01), but with a higher rate of reported adverse events when compared with surgery and endoscopy (P < 0.001). Endoscopic treatment was associated with a higher number of required sessions to achieve complete eradication when compared with surgery (P < 0.001). No differences between the three main areas were found in the overall follow-up time (P = 0.19) or in the recurrence rate (P = 0.45). CONCLUSION: Endoscopy, surgery, and systemic drug therapy are feasible treatment options for BRBNS. Systemic drug therapy was the favorite second-line treatment after endoscopic failure or recurrence of BRBNS, but adverse events were more frequently reported.

Surgical considerations for spinal epidural hematoma evacuation in the setting of blue rubber bleb nevus syndrome in a child.

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition that presents with venous malformation blebs throughout the body, most commonly on the skin and gastrointestinal tract. There have only been a limited number of reports of benign BRBNS lesions involving the spine in children, which were detected after chronic symptomatology. We herein present a unique case of a ruptured BRBNS venous malformation into the epidural space of the lumbar spine in a child presenting with acute neurologic deficit and discuss the relevant surgical considerations for operating in the setting of BRBNS.

Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.

Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests TEK mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic TEK mutation. Although uncommon, this case suggests that Blue Rubber Bleb Nevus Syndrome should be considered in the differential of a patient with persistent anemia and cutaneous lesions, carrying the potential for multiple gastrointestinal vascular malformations progressing to hemorrhage necessitating operative management. Additionally, a severe phenotype can occur without a double-hit TEK mutation.

Sirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: A case series.

Blue rubber bleb nevus syndrome (BRBNS) commonly presents with anemia from bleeding gastrointestinal (GI) vascular malformations. Management is highly variable, as no consensus guidelines for medical treatment currently exist. Sirolimus has been used in BRBNS to decrease GI bleeding and seems well tolerated, though questions remain regarding dosing, duration of therapy, and adverse effects. Here, we report our single-center experience of four pediatric patients with BRBNS who were successfully treated with sirolimus and review the existing literature regarding sirolimus for treatment of GI bleeding in BRBNS. Further prospective studies are needed to establish optimal dosage, drug monitoring, and duration.

Treatment of sirolimus in the pathological femoral fracture related to blue rubber bleb nevus syndrome: A case report.

RATIONALE: Blue rubber bleb nevus syndrome (BRBNS) is a rare condition with characteristic vascular malformations of the skin, most frequently lesions of the gastrointestinal tract and central nervous system, and less often, the musculoskeletal system. We report a 5-year case of BRBNS complicated with pathological femoral fracture that was successfully treated with sirolimus. PATIENT CONCERNS: We report the case of a 1-week-old girl with a diagnosis of BRBNS who had multiple venous malformations over her body. She also presented with right lower-limb swelling and complicated with a pathological femoral fracture. DIAGNOSES: BRBNS with the complication of pathological femoral fracture. INTERVENTIONS: Treatment with low-dose sirolimus as an antiangiogenic agent was administered, combined with hip spica protection. OUTCOMES: The vascular lesion was reduced after about 6 months and the fracture site had healed around 2.5 years after initiation of sirolimus therapy. There were no drug adverse effects at the 5-year follow-up point. The patient showed excellent spirit and no obvious sequelae were found. LESSONS: To the best of our knowledge, this is the first report of the successful use of sirolimus in a patient with a pathological femoral fracture related to BRBNS complications.

Clipping with double-balloon endoscopy for small intestinal venous malformations in a patient with blue rubber bleb nevus syndrome.

Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by venous malformations in the skin and gastrointestinal tract, especially in the small intestine. Patients with BRBNS have increased risks of gastrointestinal hemorrhage and anemia. This is the first report in the English literature on BRBNS with hemangiomas in the small intestine that were treated successfully by endoscopic clipping using double-balloon endoscopy. A 25-year-old Japanese man presented to a local clinic with dyspnea, fatigue, and a hemoglobin level < 5 g/dL. The diagnosis was iron deficiency anemia. Since childhood, he had had a hemangioma in the shoulder joint and hemangiomas in the skin on the left arm. However, neither upper nor lower gastrointestinal endoscopy showed any lesions and he was referred to us for further evaluation and treatment of the anemia. Small bowel capsule endoscopy (SBCE) revealed hemangiomas in the small intestine, one of which was bleeding. Transanal DBE revealed a 10-mm bluish-purple hemangioma with erosion on the surface, which became smaller after application of five clips. Follow-up SBCE on day 50 showed that the hemangioma had completely disappeared. Clipping may be a safe and effective treatment for small bowel hemangioma in BRBNS.

Blue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder in which there is development of multiple venous malformations and haemangiomas in the skin and visceral organs. The lesions mostly involve the skin and gastrointestinal systems but other organs, including the liver, muscles, and the central nervous system, can also be involved. If untreated, affected individuals develop severe anaemia. Most cases are managed with iron supplementation and blood transfusions but some may require surgical resection, endoscopic sclerosis and laser photocoagulation. Here, we present a case of BRBNS in a four-year-old girl with multiple cutaneous lesions, melena and severe anaemia. Review of South Asian literature showed that only two cases (besides ours) have been reported from Pakistan and the rest were from India. This highlights the lack of awareness of BRBNS among physicians in Pakistan and the rest of South Asian countries.

Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.

A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. A diagnosis of blue rubber bleb nevus syndrome was made at age 7 when the patient developed a tender vascular lesion on his foot and was found to have other mucocutaneous lesions of the extremities and gastrointestinal tract. This is the first pediatric case of such an aggressive orbital vascular malformation from blue rubber bleb nevus syndrome causing neonatal amblyogenic ptosis and intraorbital meningoencephalocele in childhood. It is the second report of a patient presenting with an isolated orbital vascular malformation without other manifestations of blue rubber bleb nevus syndrome, leading to his delayed diagnosis.

An unusual cause of anemia: Bean syndrome.

Bean syndrome or blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by venous malformations (VM) of the skin, soft tissues and visceral organs, most frequently affecting the gastrointestinal (GI) tract. BRBNS is mainly sporadic but can be inherited in an autosomal pattern. The most common symptoms are GI bleeding and secondary iron deficiency anemia. Treatment is largely symptomatic.

Bean's syndrome (blue rubber bleb nevus syndrome - BRBNS) as a gastrointestinal bleeding - case report and review of the literature.

BRBNS is a rare syndrome of vascular malformations caused by the TEK mutation associated with numerous lesions of the skin and gastrointestinal tract. We present a case report of 41 year old man with severe anemia with recurrent bleedings. The detailed clinical, endoscopical and histopathological description is given as a wide range of differential diagnosis of vascular lesions based on pathophysiology and updated classification of vascular lesions. Clinicopathological diagnosis and treatment options of BRBNS are discussed.

Blue rubber bleb nevus syndrome associated with tuberous sclerosis complex and CNS involvement.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding.