Blue rubber bleb naevus syndrome: an unusual cause of urethral bleeding

Sir, A 36‐year‐old Afro‐Caribbean man was admitted acutely to our hospital with a 1‐day history of heavy urethral bleeding. There were no other urological symptoms and no history of trauma. He was known to have blue rubber bleb naevus syndrome (BRBNS). He had previously undergone two Nd‐YAG laser coagulation treatments of bleeding upper gastrointestinal haemangiomas and had had several local excisions of painful cutaneous lesions in the past. He took ferrous sulphate on a long‐term basis. On examination, he had multiple asymptomatic cutaneous soft, reddish/blue nodules over his torso, upper limbs and scalp. He was haemodynamically stable. There were no other abnormal examination findings. On admission, his haemoglobin was 9·9 g dL−1, with normal electrolytes and clotting screen. His urine microscopy was negative, apart from a large number of red blood cells. Renal ultrasound scan showed no obvious haemangiomas. A penile ultrasound scan, with the urethra distended with lignocaine gel, showed the presence of a 1‐cm ovoid lesion in the mid‐shaft of the penis that protruded into the urethral lumen. It was vascular on colour flow Doppler, consistent with the diagnosis of a haemangioma (Fig. 1). This was confirmed with flexible cystourethroscopy. No intravesical cause for the bleeding was seen. The patient was managed conservatively and the urethral bleeding settled within 48 h. His haemoglobin on discharge was 10·5 g dL−1. To date, he remains well and has had no further episodes of urethral bleeding. Penile ultrasound appearance of the normal urethra (a) and of a urethra containing an ovoid lesion (b), consistent with a haemangioma of blue rubber bleb naevus syndrome. BRBNS is a rare, usually sporadic, condition affecting the venous circulation, resulting in the formation of cutaneous and mucosal haemangiomas. First described by Bean in 1958,1 only approximately 200 cases have been reported to date in the literature. The syndrome is usually present from birth or childhood;2 Afro‐Caribbean individuals are only occasionally affected, BRBNS presenting more frequently in caucasians. Cutaneous lesions are always present and consist of multiple reddish/blue, soft, compressible nodules with overlying hyperhidrosis.2 They are typically asymptomatic. Mucosal lesions predominantly affect the gastrointestinal tract and may bleed, resulting in either acute or chronic blood loss. Acute management of actively bleeding lesions has been successfully achieved using Nd‐YAG laser therapy.3 In the urinary tract, haemangiomas have occasionally been described in the kidney4 and urinary bladder.5 Detection has been performed using thallium‐labelled red blood cells4 and ultrasound/magnetic resonance imaging.5 Treatment of the renal lesions has been conservative,4 but those in the bladder required combination therapy with laser ablation and open partial cystectomy5 as haematuria persisted. Treatment for urethral lesions is unclear, with either conservative or interventional options (with Nd‐YAG laser therapy) being possible, depending upon the degree of urethral bleeding. As our patient's urethral bleeding settled with conservative management, no further treatment has been instituted at this time. This is because of the concern that Nd‐YAG therapy to the urethra may induce late stricture formation. To our knowledge, this is the first reported case of clinical presentation due to a urethral haemangioma as part of the BRBNS.