In this case, the patient had suffered from recurrent hemangiomas in the skin. In the process of evaluating the cause of the patient's iron deficiency anemia by performing endoscopy, a small bowel series and colonoscopy, multiple hemangiomas were found in the gastrointestinal tract.
Diseases that involve recurrent vascular malformation of the skin and gastrointestinal tract include BRBNS, Mafucci's syndrome, Rendu-Osler-Weber syndrome. However, the patients with Mafucci's syndrome also have dyschondria, and Rendu-Osler-Weber syndrome often involves recurrent episodes of epistaxis, the pathologic findings of telangiectasia and this disease is inherited in an autosomal dominant pattern. Therefore, we were able to diagnose our patient with BRBNS5
BRBNS (or Bean's syndrome) is a rare disorder that is characterized by multiple recurrent vascular malformations such as hemangiomas, and these primarily involve the skin and the gastrointestinal tract1)
reported the disease's association with hemagniomas in the skin and gastrointestinal tract for the first time in 1860; Bean1)
was the first to call it BRBNS in 1958. About 200 cases of BRBNS has been reported in the English literature, and with the exception of two Korean cases reported in the English literature, there have been no cases reported in the Korean literature3
The vascular malformations that appear in BRBNS include telangiectasia, capillary hemangioma, cavernous hemangioma, venous angioma and on rare occasion arteriovenous fistula8)
. They may involve the brain, liver, lung or muscle in addition to the skin and gastrointestinal tract1
. The most common clinical manifestation of BRBNS is iron deficiency anemia which is caused by bleeding of vascular malformations in the gastrointestinal tract. In most cases, the cause is occult bleeding, but there have been cases where the bleeding presented as melena or hematochezia. Intussusception, hemothorax, hemopericardium, pulmonary hypertension, dementia, paraparesis, ataxia, cortical blindness. Chronic consumption coagulopathy may also occur on ocassion8
The skin lesions of BRBNS mainly appear in the trunk and upper extremities and these are characterized by their small size, bluish color, softness, absence of pain and bleeding, and the tendency to refill with blood after compression14
. The skin lesions in this case were also small, bluish, soft and compressible, and they occurred in the upper extremities; these are the typical features of BRBNS. The gastrointestinal lesions of BRBNS are usually distributed throughout the gastrointestinal tract and mostly in the small bowel and distal colon2
. Upon endoscopy, the mucosal nodules are either flat, polypoid or they have central bluish nipples. Also, some of these nodules showed evidence of recent or active bleeding. In our case, the gastrointestinal lesions were distributed from the stomach to the distal colon.
Although BRBNS develops sporadically in most cases, it is sometimes inherited in an autosomal dominant pattern and its association with chromosome 9p has already been established 17)
. In the light of the patient's lack of a family history of BRBNS, this case seems to have developed sporadically.
Several therapeutic modalities have been attempted to date for treating BRBNS. Medical treatment consists of iron supplementation for anemia2)
, steroids, interferon α-2a and octreotide to reduce the frequency and severity of bleeding episodes. However, in most cases, discontinuing administration of these medical treatments has led to recurrence of the disease18
. New therapeutic modalities for treating the gastrointestinal lesions have recently been attempted such as endoscopic laser photocoagulation, sclerosis, band ligation and polypectomy3
. In the event that any life-threatening hemorrhage occurs, either excision of the gastrointestinal lesions or segmental resection of the involved GI tract can be performed. Yet another lesion may subsequently appear that can result in rebleeding21)
. In a recent study performed by Fishman22)
on ten patients with BRBNS, complete gastrointestinal endoscopy was conducted followed with removal of all the gastrointestinal lesions by means of wedge resection, endoscopic polypectomy, suture-ligation, segmental bowel resection and band ligation (surgical eradication), and the patients were followed up for five years on average. As a result, gastrointestinal bleeding recurred in only one patient who had received less extensive procedures. In our case, the patient's hemoglobin level has been constantly and appropriately maintained without any additional transfusions ever since the patient was started on methylprednisolone.
However, follow-up endoscopy performed on the 21st hospital day showed no interval changes in the size or number of the gastrointestinal lesions. Long term follow up is required in order to evaluate the effect of treatment with methylprednisolone on patients with BRBNS, and also to determine if surgical eradication may be needed.