Blue Rubber Bleb Nevus Syndrome: More Lessons to be Learnt

 

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Good case reports will always find a ready readership. It would be even more fascinating - and highly educational - if a candid follow-up report were made in due course, especially if new insights into the exact diagnosis and treatment outcome emerge during continuous close observation as time elapses. It may be difficult to characterise the pathology at first, with only the evolving clinical behaviour finally defining the true nature of the underlying disease condition. One may have to rethink the diagnosis and treatment plan. The following is an interesting case in point.

In 2003, we reported the case of a five-year-old girl presenting with recurrent bleeding from multiple haemangiomas of the colon since the age of eight months [[4]]. She was also noted to have bluish, rubbery, bleb-like angiomatous lesions covering most of the lateral aspect of the right thigh. Successful colonoscopic ablation of the lesions was achieved using argon plasma coagulation (APC), as evidenced by the disappearance of the culprit lesions at repeat colonoscopy. However, in the ensuing years, new crops of haemangiomas continued to arise, not only in the colon, but also in and around the anus. The anal haemangiomas required excision twice because of frequent bleeding at defaecation. Meanwhile, with increasing experience gained from repeated use, we attempted to eradicate bigger colonic lesions with APC. In 2005, following one of the colonosopic APC ablation sessions, the child developed mounting abdominal pain accompanied by high fever. Given the vaguely localised abdominal signs, the patient proceeded to emergent laparoscopy, which visualised a perforation in the antimesenteric border of the distal part of the descending colon. Under laparoscopic guidance, a small transverse wound was made in the left lower quadrant just above the perforation. A 1-cm rim of friable tissue around the perforation was trimmed off and sent for microscopic examination; the resulting defect was sutured in the conventional manner. The pathology of the specimen was later reported as cauterised tissues amid residual haemangiomatous lesions. The patient made an uneventful recovery and was discharged on postoperative day 5 in an excellent condition.

In the 2003 report, we extolled the many benefits of colonoscopic APC for the treatment of colonic haemangiomas in BRBNS. Our case has since remained the first and the only one of its kind managed in this way. Initial experience did show that this minimally invasive therapy is quite safe. This is because colonic haemangiomas found in BRBNS have little chance of being involved transmurally [[2]]. Furthermore, the coagulated superficial tissue constitutes an electrically insulating zone of desiccation, which limits carbonisation and the depth of further coagulation necrosis. Our sentiment was echoed by the authors of a paper just published this month, who encountered no cases of perforation in their series of 100 patients with arteriovenous malformation and vascular ectasia in the gastrointestinal tract subjected to APC [[3]]. Nevertheless, the present continuing story strikes a cautionary note on the application of this technique to treat bigger - and thus deeper - lesions. One useful technique that has rapidly gained acceptance in recent years is to inject saline submucosally to elevate the lesion before firing the current [[5]].

This case also illustrated the advantages of another minimally invasive approach, a laparoscopically assisted technique for the emergency treatment of colonoscopic perforations. Laparoscopy has an indisputable role in localising the exact site of colonoscopic perforation. By contrast, it is well known that colonoscopic localisation of a lesion is frequently imprecise. Thus preliminary laparoscopy allows simple, easy and secure suture repair under direct vision through a tiny wound made precisely above the perforation site. It is especially suitable for small children in whom the abdominal wall is usually quite thin, and also for perforations in the part of the bowel lying just underneath the abdominal wall. The surgeon on emergency call may be more confident with the familiar hand-sutured technique to coapt oedematous tissues, particularly when the perforation has to be enlarged by excising the adjacent bowel wall that has been cauterised, devitalised, or may contain residual lesions. A tiny wound suffices for an expedient repair, thereby ensuring a swift recovery and superior cosmetic results as with any minimally invasive surgery.

There is one more lesson to be learnt from this case. In our preliminary report, a clinical diagnosis of blue rubber bleb nevus syndrome (BRBNS) was made on the basis of the characteristic cutaneous lesions coexisting with similar haemangiomas scattered throughout the colon. As the disease progressed with advancing age over the past five years and after collating current descriptions of the distinctive clinical and radiologic features of Klippel-Trenaunay-Weber syndrome (KTWS), it became apparent to us that our patient now actually has KTWS - our patient now demonstrates all three cardinal signs (the diagnostic triad) of KTWS, namely, port-wine stain, varicose veins and limb hypertrophy. Indeed, the parent of this child volunteered the observations that in the recent years her right leg was growing bigger than her left leg while the area of the flat purplish haemangioma was becoming increasingly larger ([Fig. 1]). Clinically, the right lower limb was measured to be 3 cm longer than its contralateral counterpart. Concurrently, the varicosities of the right leg are worsening. Both duplex ultrasound and magnetic resonance angiogram demonstrated a large lateral superficial vein (the so-called “Klippel-Trenaunay vein”) that began in the right foot, travelled proximally and turned postero-medially at the region of the upper thigh until it entered a prominent plexus of veins in the gluteal area. In contrast, the hypoplastic deep system was barely visualised. Remarkably, this peculiar configuration of the venous system is identical to that which characterises KTWS in every detail. Even though some authors believe that BRBNS and KTWS are two separate distinct entities [[1], [6]], there exists a considerable overlap in the clinical manifestations of these two syndromes. There is also a possibility that some cases of apparently typical BRBNS many years earlier may evolve later into a condition more like KTWS.

Fig. 1 Recent photograph of the patient showing vascular malformations with extensive port-wine stain patches and prominent varicose veins on her right leg, which is bigger than the left.

References

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Prof. W. T. Ng

Department of Surgery
Yan Chai Hospital

7 - 11, Yan Chai Street

Tsuen Wan

Hong Kong SAR

Email: houston_n@yahoo.com