CLINICAL AND LABORATORY INVESTIGATIONS

Pediatric Dermatology Vol. 9 No. 2 91-94

Blue Rubber Bleb Nevus Syndrome: Laser Photocoagulation of Colonic Hemangiomas in

a Child with Microcytic Anemia Laura Morris, M.D.,* Patrick M. Lynch, M.D.,? Wallace A. Gleason, Jr., &€.I).,$ Craig Schauder, M.D.,* Donald Pinkel, M.D.,$ and Madeleine Duvic, M.D.* **

Departments of *Dermatology, "Internal Medicine, and $Pediatrics, University of Texas Medical School at Houston, Texas, and Divisions of $Pediatrics, and ?Gastrointestinal Oncology, **University of Texas

M.D. Anderson Cancer Center, Houston, Texas

Abstract: This is a case report and review of the literature on the blue rubber bleb nevus syndrome. The clinical features of the syndrome are discussed, with emphasis on chronic gastrointestinal bleeding and re- sulting anemia. A new therapeutic modality, colonoscopy with laser pho- tocoagulation, is recommended as a safe, effective, and less invaslve method of controlling bleeding from colonic hemangiomas than surgical resection and repeated transfusions. This technique is less helpful for patients with prominent involvement of the small intestine.

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In 1860 Gascoyen (1) first described an associa- tion between cavernous hemangiomas of the skin and similar lesions in the gastrointestinal tract and parotid region. In 1958 Bean (2) further described these lesions and named the disorder blue rubber bleb nevus syndrome (BRBNS). The skin lesions take three different forms: 1) large, disfiguring cav- ernous angiomas, 2) blood sacs resembling blue rubber nipples, and 3) flat, irregular blue marks.

This rare disorder affects all races and both sexes. Most cases appear to be sporadic, but some families have shown an autosomal dominant pattern of inheritance with substantial penetrance (3). Most reported patients are adults, but the lesions occur in children and have been described in neonates (4).

Chronic gastrointestinal bleeding with chronic or recurrent micro~ytic anemia due to iron deficiency is the most important clinical problem for these pa-

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tients. Although the gastrointestinal hemangiomas are resectable, recurrences are common, limiting the appeal of a radical surgical approach (5). Recent experience with less aggressive forms of manage- ment have shown promise. Good clinical results were seen after 225 skin hemangiomas were re- moved with a carbon dioxide laser from a 21-year- old man who suffered from BRBNS (6). A 19-year- old woman had gastrointestinal hernangiomas treated on two separate occasions with endoscopic laser photocoagulation (7). She ultimately required surgical resection due to difficulty reaching ileal le- sions, and because of recurrence.

This report describes the ablation of several co- lonic hemangiomas using endoscopic neodynium: yttrium-alum~num-garnet (Nd:YAG) laser photoco- agulation in a child with BRBNS who had associated microc y tic anemia.

Address correspondence to Madeleine Duvic, M.D., Depart- ment of Dermatology, University of Texas Medical School, 6431 Fannin, MSB 1.186, Houston, TX 77030.

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92 Pediatric Dermatology Vol. 9 No. 2 June 1992

CASE REPORT

A 10-year-old girl was referred to the University of Texas M.D. Anderson Cancer Center for evaluation of severe microcytic anemia. In January 1990 mi- crocytic and hypochromic anemia, and symptoms of fatigue and dizziness had necessitated transfu- sions. On initial examination, the patient had multi- ple, raised, blue, soft, cavernous hemangiomas on the lower limbs and soles (Fig. l), and in the in- guinal region. Lesions began as pinpoint, I-mm, red or purple papules. Soft, compressible subcutaneous lesions were present on the back and chest. Several areas of soft, compressible subcutaneous swelling and a surgical scar from a former lesion were present on the left hand. Some of the lesions were tender.

Laboratory tests revealed hemogIobin 7.6 gidi, hematocrit 25010, MCV 66 fl, MCH 20 pg, MCHC 31 gidl, and reticulocyte count 3.1%. Her ferritin level was 3 nglml, iron 3 pgfdl, and iron-binding capacity 420 pgidl. A red blood cell-tagged nuclear scan was performed to confirm gastrointestinal involvement and showed an abnormal area of increased activity posterior to the midlumbar spine consistent with a hemangioma. No hepatic, splenic, or gastrointesti- nal abnormalities were seen.

A bone marrow biopsy confirmed the diagnosis of iron-de~ciency anemia. Colonoscopy confirmed the presence of numerous I-ern diameter hemangi- omas in the transverse and descending colon (Fig. 2). A 1-cm semipedunculated polyp, located at 50 cm, was removed by electrocoagulation. On histo- pathologic examination it was shown to be a reten- tion polyp.

The girl was prescribed oral iron replacement and vitamin C to increase iron absorption, which re-

Figure 2. Colonic hemangioma as seen through the colonoscopy camera.

sulted in a substantial increase in her hemoglobin from 6.6 gidl to 10 gidl in four months. In July 1990 she returned for colonoscopy with laser photocoag- ulation. Twelve slightly raised, blue lesions similar to those on the skin were encountered from the rec- tosigmoid to the proximal transverse colon. Each was photocoagulated with a Nd:YAG contact laser probe, set at 21 to 22 Wlsecond, operating in a con- tinuous mode. Blanching after photocoagulation suggested interruption in blood flow and successful ablation. Upper gastrointestinal series with small bowel follow-~hrough revealed evidence of an addi- tional lesion in the ileum.

In October 1990 the patient returned for follow- up examination. She had required 2 U packed red blood cells in September and her hemoglobin was 10.5 g/dl. Colonoscopy revealed normal mucosa at the sites of the ablated hemangiomas. Five new le- sions had developed since the photocoagulation, but they were very small. They were treated with

Figure 1. (Left) Cavernous hemangioma on the sole and second toe. (Right) Large hemangioma on the lateral foot with two pinpoint lesions nearby.

Morris et al: Blue Rubber Bleb Nevus Syndrome 93

laser photocoaguIation without complications. Re- peat colonoscopy in April 1991 again revealed nor- mal mucosa at the sites of prior photocoagulation and only four new lesions, one each in the ileum, splenic flexure, sigmoid, and rectum. These were treated with a total of 620joules with 44 pulses. The patient did well over the next seven months and re- quired only one transfusion, in August 1991.

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To date, approximately 80 cases of BRBNS have been cited in the literature (3,5,8-23). Hemangio- mas have been reported in the oral cavity (24-251, naso~harynx (271, lung (281, pleura (141, peritoneal cavity (281, mesentery, liver (29). spleen, skeletal muscle, joint capsule (30), heart (15), brain (31), conjunctiva, iris, retina (32,331, penis f34,35), uterus, and urinary bladder (35). The most common extracutaneous site of invoivement is the gastroin- testinal tract, with the small bowel being most fre- quently involved (3). In contrast to the skin lesions, the gastrointest~nal lesions often bleed spontane- ously. As in this patient, anemia due to gastrointes- tinal bleeding is frequent in both adults and chil- dren. It is important to consider this syndrome in cases of unexplained anemia when the characteris- tic skin lesions are seen. Inquiry may reveal other affected family members, and carefui examination of the patient for other sites of involvement is help- ful in supporting the diagnosis (4). Magnetic reso- nance imaging also may be useful in evaluating pa- tients with BRBNS (37).

Long-term follow up in the few patients for whom this has been achieved has advanced our un- derstanding of the natural history of this disease, which is characterized by progression and recur- rence (5) . The prognosis depends on the extent of visceral involvement, the extent of bleeding, and the rate of recurrence. There is no tendency toward malignant change (38). The skin lesions usuaily do not bleed or cause anemia, however, they can be removed if they interfere with function or are cos- metically d i s ~ g u ~ n g , Iron replacement is the main- stay of treatment (5) . In general, intestinal resection to remove the gastrointestin~ lesions, although sug- gested in the literature, seems unrealistic, espe- cially in the young, because of the high rate of re- currence (5) .

The danger and inconvenience of repeated trans- fusion and the ineffectiveness of surgical excision in the face of almost certain recurrence warrant the trial of newly developed techniques that may be useful in the management of this difficult disorder.

Limited experience with endoscopic scferotherapy suggests that it is ineffective, and is complicated by the development of ulcerations, strictures, and ex- travasation of the sclerosing agent. In the case of a €%year-old woman, laser surgery was used after faiiure with sclerotherapy (7). The laser and proce- dure used were not described, and the patient ulti- mately required surgery (7). French authors re- ported three patients whose gastric and colonic hemangiomas were treated using the Nd:YAG laser with bipolar electrocoagulation (39).

In our patient, the Nd:YAG laser in a continuous mode was successfully applied with good follow-up and clinical response. Of significance is the fact that the coagulated lesions were replaced by normal mu- cosa, as opposed to ulceration or stricture, which would limit the application of this procedure. The finding is quite encouraging.

Even though this girl’s colonic lesions were sub- stantially decreased in number, and she experi- enced clinically less gastrointestinal blood loss, her cont~nuing dependence on transfusiuon suggests that an effective means of dealing with lesions in the small intestine will be important in improving the outlook for these patients. Repeated colonoscopic examinations and ph~tocoagulation offer an effec- tive and less invasive method than surgery for con- trolling bleeding from colonic lesions.

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