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.

A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: A case report and literature review.

RATIONALE: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multifocal venous malformations. Delayed diagnosis or misdiagnosis frequently occurs in patients without typical cutaneous lesions or gastrointestinal bleeding symptoms. This article reports a 10-year case of delayed diagnosis of BRBNS detected by capsule endoscopy. PATIENT CONCERNS AND DIAGNOSIS: A 15-year-old girl presented with refractory iron-deficiency anemia (IDA) for 10 years, without any hemorrhagic signs or noticeable cutaneous lesions, which led to her obvious physical growth retardation. Capsule endoscopic examination revealed dozens of vascular blebs distributed from the jejunum to the ileum and a site of active bleeding. Hence, she was diagnosed with BRBNS. INTERVENTIONS: Laparotomy was performed with resection of the small bowel lesions, and iron supplementation was prescribed for 3 months. Postoperatively, the patient had an uncomplicated course. OUTCOMES: On follow-up after 3 years, IDA in this patient was cured and she did not require further blood transfusion and showed excellent vigor. LESSONS: A high index of suspicion for BRBNS and adequate endoscopy examination will help to identify the origin of refractory IDA in older children, particularly in patients with vascular lesions of the skin.

An unusual cause of gastrointestinal bleeding in a hemodialysis patient.

Iron deficiency caused by gastrointestinal (GI) bleeding is a common cause of anemia in hemodialysis patient. Herein, we report the case of an 89-year-old hemodialysis patient who presented with acute anemia and melena. Endoscopy found gastritis and diverticulosis without active bleeding. A capsule endoscopy (CE) was then performed and revealed multiple vascular lesions that lead to the diagnosis of Blue Rubber Bleb Nevus syndrome (BRBNS). This rare disease is associated with multiple venous malformations in the skin and the GI tract, usually observed in children. The patient developed 4 months latter 2 skin lesions compatible with BRBNS. Treatment included blood transfusion and intravenous iron supplementation. We reported an unusual presentation of venous malformation BRBS which differs from angioectasia, in an adult hemodialysis patient. Overall prognosis is good.

Blue rubber bleb nevus syndrome: a case report and literature review.

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.

Localized argyria secondary to acupuncture mimicking blue nevus.

The typical clinical manifestation of localized cutaneous argyria is a blue-grayish asymptomatic macule, which may be caused by occupational exposure, topical treatment, dental amalgams and alternative medicine therapies. The lesions often are clinically indistinguishable from blue nevi and metastatic melanoma. The authors present a case of localized cutaneous argyria secondary to an acupuncture needle, emphasizing the importance of keeping this entity in mind in the differential diagnosis of blue-grayish pigmented lesion in a body area that could have been treated with acupuncture.

Endoscopic polypectomy resection of blue rubber bleb nevus lesions in small bowel.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by cutaneous and gastrointestinal (GI) venous malformations. The treatment of BRBNS is primarily supportive and ablative. Ablative therapy involves endoscopic or surgical treatment of GI venous malformations. We describe a 20-year-old woman who had multiple venous malformations all over the GI tract as well as cutaneous lesions. She had suffered from several episodes of melena, chronic anemia and fatigue for 10 years, which were treated temporarily by iron supplementation and blood transfusion. The endoscopic examination of the GI tract and total colonoscopy revealed multiple bluish sessile and polypoid venous malformations 2-3 cm in size throughout the GI tract. Argon plasma coagulation (APC) and polypectomy was done for all gastric and colonic lesions, respectively. Ileoscopy showed a large wide base vascular polypoid lesion at about 70 cm from the ileocecal valve with active bleeding; this was removed by snare polypectomy. One week later, she was discharged in good condition. At about 6 months' follow up she did not report any bleeding attack. Endoscopic polypectomy can be useful in patients with large and polypoid lesions of BRBNs which are not controlled with supportive therapy. Further experience is needed to evaluate the risks versus benefits of this approach.

Blue rubber bleb nevus syndrome: a cause of gastrointestinal hemorrhage.

Blue rubber bleb nevus syndrome is an uncommon disorder manifested by cutaneous and gastrointestinal hemangiomas and gastrointestinal hemorrhage causing anemia. We describe a young man who presented with hematemesis and melena and had multiple bluish rubber bleb-like hemangiomas over the body and in the stomach, jejunum and colon. The patient was treated with iron supplements for anemia; he is doing well 6 months later.