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CJS, Vol. 39, No. 1, February 1996 59

Blue rubber bleb nevus syn-drome (BRBNS) is an uncom-mon disorder, defined by gas-

trointestinal and skin hemangiomas,gastrointestinal hemorrhage and result-ing anemia. The syndrome is namedfor the characteristic appearance of skinlesions, which are soft, blue, compress-ible masses that become wrinkled whenthe blood is expressed with pressureand subsequently refill.1,2 We present apatient with BRBNS associated withtetralogy of Fallot who had been fol-lowed up closely since birth.

CASE REPORT

A 26-year-old white woman was

referred with chronic iron-deficiencyanemia after the birth of her first child,who was delivered by elective cesareansection. She had no history of pepticulcer disease, hematemesis, hema-tochezia or melena but had intermit-tent, mild abdominal pain. Her stoolwas negative for occult blood whentested on one occasion.Her medical history was significant.

At 6 months of age tetralogy of Fallotwas diagnosed; she underwent Blalockanastomosis at the age of 2 years. Shewas admitted for total correction of thetetralogy at the age of 6 years, but herhemoglobin level was only 77 g/L andthere was occult blood in the stool. Re-sults of barium studies were normal. At

laparotomy no source of gastrointesti-nal bleeding could be found. The fol-lowing year she had total correction ofthe tetralogy, but her hemoglobin levelremained low, so iron, taken orally, wasprescribed. She was operated on againat 7 years of age, when multiple he-mangiomas, 1 to 5 mm in diameter,were discovered in the intestine; theywere removed through enterotomies.An accessory spleen was also removed.At the age of 12 years she again had alow hemoglobin level (80 g/L), butsigmoidoscopy revealed no lesions.However, a hemangioma of the rightmiddle finger, 1 cm in diameter, wasnoted. One year later she had anepisode of rectal bleeding. Angiogra-

Case ReportÉtude de cas

BLUE RUBBER BLEB NEVUS SYNDROME

Michele M. Carr, BSc, DDS, MD;* Christopher G. Jamieson, MB BS, FRCSC;† Geeta Lal, BSc‡

From the Department of Surgery, Faculty of Medicine, University of Toronto, Toronto, Ont.

*Resident in otolaryngology, Dalhousie University, Halifax, NS

†Head, Department of General Surgery, The Wellesley Hospital, Toronto, Ont.

‡Fourth-year medical student, University of Toronto, Toronto, Ont.

Accepted for publication Jan. 31, 1995

Correspondence and reprint requests to: Dr. Michele M. Carr, Department of Otolaryngology, Camp Hill Medical Centre, 1335 Queen St., Halifax NS B3J 2H6

Blue rubber bleb nevus syndrome, an uncommon condition, is manifested by gastrointestinal and skin he-mangiomas and gastrointestinal hemorrhage causing anemia. The authors report a unique case of the syn-drome in association with a congenital cardiac malformation. A 26-year-old woman presented with iron-deficiency anemia after the birth of her first child. She had a history of skin and gastrointestinalhemangiomas and tetralogy of Fallot. Endoscopy revealed multiple new intestinal hemangiomas, whichwere removed through enterotomies with resolution of the anemia. Iron therapy was prescribed, and hercondition was stable at follow-up 5 years later.

Problème rare, le syndrome de Bean se manifeste par des hémangiomes gastrointestinaux et cutanés et unehémorragie gastrointestinale qui cause de l’anémie. Les auteurs décrivent un cas unique du syndrome lié àune malformation cardiaque congénitale. Une femme de 26 ans s’est présentée en état d’anémiesidéropénique après la naissance de son premier enfant. Elle avait des antécédents d’hémangiomes cutanéset gastrointestinaux et de tétralogie de Fallot. L’endoscopie a révélé de multiples hémangiomes intestinauxfrais dont on a effectué l’ablation par entérotomie, ce qui a réglé l’anémie. On a prescrit une sidérothérapieet son état était stable après 5 ans de suivi.

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phy showed hemangiomas in the smallintestine and around the ileocecal valve.Colonoscopy revealed 10 heman-giomas in the distal 60 cm of the de-scending colon and sigmoid. Thesevaried in appearance, some being exo-phytic, others being flat. Levophed,0.5 mL orally, was prescribed. A shorttime after this she underwent entero-tomies to remove 26 hemangiomas inthe small bowel and 7 hemangiomas inthe large bowel.She remained well until she was

18 years old, when she was admittedto hospital with a swollen, painful leftknee. A synovial thickening was re-moved arthroscopically, but the find-ings were unknown.After the birth of her child, her ane-

mia again became refractory to oral irontherapy, and she underwent endoscopy.Examination revealed two heman-giomas in the second portion of theduodenum, several in the left colon anda pedunculated hemangioma in thetransverse colon. Angiography showedtiny tangles of abnormal small vessels,

two in the terminal ileum (superiormesenteric artery angiogram) and onein the rectosigmoid (inferior mesentericartery angiogram) (Fig. 1). At opera-tion, 17 hemangiomas were excised orsuture ligated through four entero-tomies. A small amount of dark greenascitic fluid was found. Pathological ex-amination revealed hemangiomas withintravascular thrombi involving the lam-ina propria and submucosa.She continued her iron therapy and

at follow-up 5 years later her hemo-globin level was stable at 109 g/L.She had undergone two repairs of in-cisional hernias and each time a smallamount of ascitic fluid was noted.New skin lesions continued to arise,and some lesions had regressed butnot disappeared. She had lesions onboth hands (Fig. 2), inside the lowerlip, at the base of the left side of theneck and behind the right ear. Nonerequired surgical intervention or werecosmetically compromising.

DISCUSSION

BRBNS was first described by Gas-

coyen in 18603,4 and later by Bean in1958.1 The components of Bean’s de-finition included hemangiomas of theskin and gastrointestinal tract, andgastrointestinal bleeding leading toanemia.1,2,4–6

Genetically, the syndrome is mostlikely of a sporadic nature;5 several au-thors4,7,8 have described pedigreesshowing autosomal dominance, butnone of these index cases had evidenceof gastrointestinal involvement. Allraces are affected, and the sex distrib-ution is equal.2,3,6,9–11

In addition to the soft, blue, com-pressible masses, the skin lesions mayalso be large cavernous hemangiomasor blue-black macules or papules1,3,12,13

and may number from one to hun-dreds.14 They appear at birth or inchildhood15 and increase in size andnumber with age.2,3,9,16–18 Lesions maybe found anywhere and can be associ-ated with hyperhidrosis and pain3,6,19,20

but rarely bleed9,17 and are not knownto undergo malignant change.3, 17,19

Gastrointestinal lesions are foundfrom mouth to anus10,11,18 and arethought to be most common in the

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60 JCC, Vol. 39, No 1, février 1996

FIG. 1. Inferior mesenteric artery angiogramshowing small tangle of abnormal blood vessels(arrow) in rectosigmoid area.

FIG. 2. Volar surface of patient’s hands showing swellings, which are soft and bluish, on long and ringfingers and on hypothenar eminence.

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small intestine.6,9 Iron-deficiency ane-mia secondary to occult gastrointesti-nal blood loss is the commonest formof presentation.3,4,6,14,16,19,21,22 Intestinallesions can cause abdominal pain re-lated to intussusception, volvulus, in-tramural hemorrhage or infarc-tion.3,6,13,17,22 Lesions elsewhere canresult in hematuria,10 epistaxis, he-moptysis and menorrhagia.3,16 Bonedeformities caused by pressure effectsor hypervascularity result in skeletalbowing, pathologic fractures, bonyovergrowth and articular derange-ment.5,21 There are reported associa-tions of BRBNS with coagulopathyand deep venous thrombosis,23 medul-loblastoma, pulmonary hypertension,hypernephroma and Maffucci’s syn-drome.3,4

Initially, the diagnosis is made fromclinical findings. Abdominal radi-ographs may show phleboliths in in-testinal hemangiomas after thrombosisand organization.21,22 These are seen inone-third of children with gastroin-testinal hemangiomas.22 Barium stud-ies may show filling defects, most com-monly wide-based sessile polyps,24 butmay not show any abnormality.3,6,14,25

Angiography may reveal hemangiomasmissed by barium studies25 and is mostuseful in cases of active bleeding.14 En-doscopy may in turn show those le-sions missed by angiography.3,6,14,26 En-doscopically, the lesions appear asbluish nodules with normal mucosalwalls capped by thinned mucosa.5 Le-sions have also been identified by com-puted tomography and magnetic reso-nance imaging.3,10,13

Pathological findings are typical ofcavernous hemangioma.7,10,14,19,27 Thereare numerous dilated blood-filledspaces lined with cuboidal epitheliumand surrounded by a fibrous stromawith occasional smooth-muscle cells,and there may be a proliferation ofsweat glands.14,19,27

There are several vascular syn-

dromes similar to BRBNS. In Osler–Weber–Rendu syndrome patients havegastrointestinal and skin lesions, but the latter are telangiectatic andmacular and may be subungual.5,7,9,12,14

Klippel–Trenaunay syndrome includescutaneous hemangiomas and limb hy-pertrophy but not gastrointestinal in-volvement.12 Maffucci’s syndrome as-sociates dyschondroplasia with vascularhamartomas of skin and viscera.4,9 Glo-mangiomatosis (multiple glomus tu-mours) can be identified by pathologi-cal examination.19

Initial therapy for BRBNS consistsof orally administered iron prepara-tions to combat anemia, especially ifgastrointestinal blood loss is oc-cult.3,6,14,18,19,28 Transfusions may occa-sionally be necessary.2,19 A full investi-gation of the entire tract to identify allpotential bleeding sites is required be-fore the treatment of symptomatic gas-trointestinal lesions. Such lesions canbe endoscopically photocoagulat-ed with continuous neodymium:yttrium–aluminum–garnet laser, andmucosa has been shown to heal wellwithout strictures.2,28 Sclerotherapy isassociated with multiple complica-tions, including ulceration and scar-ring, and is not widely used.28 Entero-tomy and excision of hemangiomaspreserve bowel, and large lengths ofbowel can be cleared at each entero-tomy site.22 Bowel resection is reservedfor serious bleeding, localized lesionsand intussusception.3,6,14,17,19,22 Combin-ing endoscopic photocoagulation withresection and enterotomy may provevaluable.2 Our case suggests that bowellesions continue to arise, so patients re-quire follow-up with barium studiesand endoscopy when anemia becomesrefractory to iron therapy.17

Some authors18,19,29 advocate lasersurgery or excision of cosmeticallycompromising skin lesions, but pa-tients should be warned of the possi-bility of bleeding or recurrence.17

CONCLUSIONS

Because BRBNS is rare, most of ourknowledge about it is based on anec-dotal reports. Our case is unique be-cause it is the first reported associationwith a congenital cardiac malformationand demonstrates the continuous na-ture of gastrointestinal hemangiomaformation. Patients suffering fromBRBNS require conservative treat-ment with close follow-up to avoidmajor ablative surgery and its compli-cations.

We thank Dr. Barry Shandling, professor ofsurgery at The Hospital for Sick Children,Toronto, for his support.

References

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