Blue rubber bleb nevus syndrome (BRBNS) is a very rare condition.
Herein we report the case of a 14-year-old girl who presented with chronic
anemia that had required multiple blood transfusions and iron supplementation
for many years. She had also received steroids. Physical examination revealed
multiple small lesions on the dorsum of her feet ([Fig. 1]).
Fig. 1 Multiple small black
cystic lesions on the feet of a 14-year-old girl who presented with chronic
anemia due to blue rubber bleb nevus syndrome.
Computed tomography (CT) of the abdomen showed multiple intraluminal
lesions in the small bowel and colon ([Fig. 2]).
Fig. 2 Computed tomography (CT)
scan of the abdomen showing multiple intraluminal polypoid lesions in the small
bowel (white arrows).
A gastroscopy was performed ([Fig. 3]),
followed by a colonoscopy and uneventful polypectomy of the colonic lesions
([Fig. 4]; [Video 1]).
Fig. 3 Appearance at
esophagogastroduodenoscopy showing multiple submucosal lesions (white arrows)
in: a the fundus of the stomach; b the body of the stomach; c the
duodenum.
Fig. 4 Colonoscopic view
showing one of the multiple small cystic polyps in the colon.
Video
1 Colonoscopic polypectomy of
the lesions in the colon was performed using a standard snare with
electrocautery.
Histology revealed a cavernous hemangioma consistent with BRBNS. The
patient underwent an exploratory laparotomy 1 week later during which she was
found to have multiple lesions affecting the entire small bowel ([Fig. 5]), some of which had also caused
intussusceptions of the small bowel.
Fig. 5 Appearance of the small
bowel at laparotomy showing multiple blebs within the wall of the small
bowel.
An enterotomy was performed; she underwent further polypectomy of
the internal lesions and resection of small-bowel wall to remove lesions that
were involving the muscle layer. She was discharged from the hospital on the
seventh postoperative day and 1 year later is doing well, having required no
further blood transfusions.
BRBNS was first reported by Gascoyen in 1860 [1] but the individual who made this disease famous was
William Bennett Bean; it is also known as “Bean syndrome”
[2]. The condition consists of multiple venous
malformations that affect the skin and multiple visceral organs. The most
common site for gastrointestinal tract involvement is the small bowel
[3]. Skin lesions typically present at birth, whereas the
gastrointestinal manifestations develop mostly in late adulthood. The commonest
presenting symptom is spontaneous gastrointestinal bleeding, but the degree of
bleeding may range from occult to profuse bleeding [4].
Various combinations of endoscopic and surgical treatment, such as endoscopic
polypectomy or injection [5], or enterotomy with excision
of the small-bowel lesions [4] have been shown to be
effective forms of management in refractory cases.
Endoscopy_UCTN_Code_CCL_1AC_2AB
