Multiple Cutaneous Swellings Associated With Sudden Collapse FREE

A 77-year-old man presents with acute inability to walk. There is nohistory of trauma or back pain, and he has no bladder, bowel, or radicular symptoms. Medical history is significant only for benign prostatic hypertrophy. He takes no medication, has never smoked, drinks negligible alcohol, and prior to this episode was fully independent. On physical examination, the left lower extremity has reduced motor strength at 2/5 throughout, with depressed reflexes (2/4 knee and ankle jerks) and subjective, nondermatomal light-touch sensory loss. Plantar reflexes are down-going bilaterally. Right lower extremity strength and anal tone are normal, and there is no vertebral tenderness. Cardiac, pulmonary, and abdominal examination results are normal. There are multiple, tender, blue-black cutaneous swellings of up to 1-cm diameter across the upper torso/shoulders (Figure 1), which he says have been present for many years. He quickly deteriorates, developing profound bilateral leg weakness.

See www.jama.com for online Clinical Challenge.

Blue rubber bleb nevus syndrome

C. Order spinal MRI

The key feature in this case is the sudden onset of marked leg weakness, initially unilateral, but quickly progressing to bilateral paraparesis. This suggests spinal cord compromise, and the acute onset implies a vascular etiology. Spinal MRI would be the definitive way to visualize this, and then an underlying cause can be investigated.

Blue rubber bleb nevus syndrome (BRBNS) is a rare sporadic disorder of venous malformation affecting skin and viscera, first described by William Bennet Bean in 1958, hence the alternative name of Bean syndrome.¹ No firm genetic link has been confirmed, but recent work implies an association with a TEK tyrosine kinase mutation.² BRBNS is characterized by dark blue, rubbery, somewhat compressible swellings within the dermis and subcutaneous structures.¹ Clinically, differential diagnoses would include slow-growing cutaneous metastases of malignant melanoma. There may be few or hundreds of lesions, and as in our patient, they are usually found on the trunk and limbs.³ Cutaneous lesions do not seem to bleed spontaneously and malignant change has not been reported. Depending on the site, size, and number of lesions, differential diagnoses may include Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia), familial cutaneous and mucosal venous malformation syndrome, familial glomangiomatosis, diffuse neonatal hemangiomatosis, and Maffuci syndrome.

Diagnosis of BRBNS is based on classic clinical findings and can be supported histologically by skin biopsy. Lesions are similar to other venous malformations, with enlarged vascular channels lined by thin endothelial cells, previously described as cavernous hemangiomas.³ Similar venous malformations to those in skin can occur elsewhere, most commonly within the gastrointestinal tract where they may cause chronic iron-deficiency anemia, intussusception, or occult hemorrhage.⁴ Case reports have also described lesions in the central nervous system (CNS), orbit, nasal cavity, thyroid, lung, liver, kidney, and spleen. Clinical features vary by site and can include seizures, ataxia, weakness, proptosis, epistaxis, hemoptosis, hemothorax, and pulmonary hypertension.^3,5- 7

Treatment is difficult and varies depending on site, size, and number of lesions. Skin lesions have been treated with excision, sclerotherapy, cryosurgery, and laser.^8- 9 Gastrointestinal lesions have been treated with resection, endoscopic photocoagulation, laser, sclerosis, and banding ligation.¹⁰ The prophylactic treatment of CNS lesions has not been recommended; their spontaneous bleeding is rare and effective treatment options remain unknown. Because gastrointestinal bleeding is the most common cause of mortality, evaluation should also include a complete blood cell count to check for anemia, stool for fecal occult blood, and imaging of the gastrointestinal tract as appropriate.

In this patient, spinal MRI revealed focal intramedullary hemorrhage, from T11 to L1 with associated cord edema extending from T9 to the conus (Figure 2). MRI of the brain additionally highlighted multiple foci of hemorrhage (Figure 2), suggestive of multiple cavernomas. There was no clear provoking factor for spontaneous bleeding of these previously quiescent CNS lesions. He received high-dose pulsed IV methylprednisolone for several days, without improvement. A representative skin lesion was excised, and histology showed the appearance of venous malformation, consistent with the diagnosis of BRBNS. There was no evidence of gastrointestinal involvement. He was discharged to a nursing facility for ongoing rehabilitation.