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.

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: our experience and new endoscopic management.

The aim of our study is to enhance the awareness of blue rubber bleb nevus syndrome (BRBNS) through the patients in our hospital and introduced a new measure of endoscopic intervention.A retrospective review of 5 patients, who were diagnosed as BRBNS in our hospital from January 2013 to January 2017, was conducted. Data were collected with regard to demographics, clinical presentation, endoscopic and imaging findings, management, and follow-up data.In total of 5 patients, the mean age was 28.8 years, range 16 to 44 years (male/female, 1/4) with the average initial age of onset 15.4 years. No family history was identified in our group. Physical examination showed multiple cutaneous lesions in 2 patients (40%, 2/5). All the 5 patients had gastrointestinal tract vascular malformations; stomach involved in 2 cases, large intestine in 2 cases, and small intestine involved in 3 cases. Lesions in the visceral organs and tissue were found in 1 patient. Gastrointestinal bleeding was its main symptom (3/5, 60%). Laboratory investigations revealed anemia in 4 patients and abnormality of coagulopathy in 2 patients with severe anemia. Conservative approach was recommended in 3 cases that included iron supplementation, drug hemostasis, and/or blood transfusion. An innovatively therapeutic approach with endoscopic submucosal dissection (ESD) procedure was used successfully in 1 patient with 2 polypoid BRBNS lesions in rectum.BRBNS is a very rare vascular malformation syndrome with unclear etiopathogenesis and noncurative treatments. ESD procedure was a feasible approach to remove the partial gastrointestinal lesions.

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.

A preliminary report of the treatment of blue nevus with dermal injection of riboflavin and exposure to near-ultraviolet/visible radiation (ribophototherapy).

Dye lasers are useful for treating pigmented skin lesions, but their equipment is expensive and bulky. A simple and cheap phototherapy would be acceptable to dermatologists for treating pigmented skin lesions such as nevus of Ota. We investigated as a pilot study whether dermal injection of riboflavin and exposure to near-ultraviolet/visible radiation (ribophototherapy) decreases the dermal pigment of blue nevi which are recalcitrant to laser therapy. The therapeutic efficacy was assessed by comparison of the amount of dermal pigment in hematoxylin-eosin specimens taken before and after treatment. Pigmentation of the nevus became faint to the depth of 1 mm with little noticeable epidermal change after 21 treatments. At the deeper dermis somewhere between 3 and 4 mm from the epidermis, ballooning degeneration of the dermal cells was observed in hematoxylin-eosin specimens. Ribophototherapy is hopeful for treating pigmented skin lesions.