Blue Rubber Bleb Nevus Syndrome Clinical Presentation

Updated: Jan 24, 2019
  • Author: Basil S Cherpelis, MD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

The lesions of blue rubber bleb nevus syndrome (BRBNS) are asymptomatic; however, some may be spontaneously painful or tender to palpation. Patients with this condition may present for evaluation secondary to concerns related to its cosmetic appearance. BRBNS is characterized clinically by numerous violaceous to dark blue colored soft papules and nodules that are compressible in nature. [10] These lesions termed "blebs" contain a discriminate rubberlike consistency upon palpation. [10] Patients with BRBNS may note increased sweating on the skin overlying the lesion.

Presenting complaints and symptoms are directly related to the degree and extent of organ system involvement. Fatigue and weakness may be due to underlying occult blood loss. Other symptoms that could prompt emergent evaluation include hematemesis, melena or frank rectal bleeding. When bone is involved, symptoms may include joint pain or impaired ambulation. Extracutaneous lesions may also result in epistaxis, hemoptysis, hematuria, or menorrhagia. Other rare complications include dementia, ataxia and coagulopathy. [12] Patients may present with blindness due to cerebral or cerebellar cavernomas that may hemorrhage into the occipital lobes. [3]

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Physical Examination

Physical findings in blue rubber bleb nevus syndrome (BRBNS) are divided into cutaneous and extracutaneous manifestations.

Cutaneous manifestations of BRBNS

Skin lesions are usually multiple, protuberant, dark blue, compressible blebs, a few millimeters to several centimeters in diameter and can vary in morphological shape. The lesions have a characteristic rubbery consistency upon palpation. They may range from few in number to hundreds of skin lesions. See the image below:

Lower extremity cutaneous lesions described in blu Lower extremity cutaneous lesions described in blue rubber bleb nevus syndrome, consisting of blue rubbery papules and nodules with an easily compressible smooth surface.

Three types of cutaneous lesions have been described in BRBNS: (1) blue, rubbery, blood-filled sacs with a smooth or wrinkled surface that are easily compressible and promptly refill when pressure is removed; (2) large, disfiguring, cavernous lesions that may compress vital structures; and (3) blue, irregular macules.

The color of cavernous lesions may appear red, purple-red, blue, or black, and morphology varies from flat to elevated, occasionally pedunculated, nodules.

Lesions may exhibit tenderness to palpation or underlying hyperhidrosis.

BRBNS skin lesions rarely bleed unless traumatized.

The progression in size and number of blebs may occur with advancing age.

The lesions are principally located on the upper limbs, trunk, and perineum, but they may occur anywhere. [13]

One case report has even described a unilateral configuration of linear lesions following the lines of Blaschko. [14]

Using polarized light, the dermatoscopic features reveal homogeneous macular blue to red-purple lesions that are separated by linear white bands. [4, 15]

Extracutaneous manifestations of BRBNS

The GI tract is the most common visceral organ affected. The small bowel is the most predominant region involved; however, vascular malformations can occur in any site in the body from the oral cavity to the anal mucosa. In contrast to the skin lesions, the GI lesions often have a tendency to bleed. They may spontaneously rupture, causing acute hemorrhage and death. However, most bleeding from the GI tract tends to progress relatively slowly, resulting in minor, chronic, and occult blood loss. This can eventually lead to an iron deficiency anemia from the ongoing bleeding. A case of thrombocytopenia and disseminated intravascular coagulation has been reported in association with BRBNS. Other complications include intussusception, volvulus, and bowel infarction. These diagnoses should be considered in patients with BRBNS and abdominal pain.

Orthopedic manifestations [16, 17] include skeletal bowing, pathologic fractures, bony overgrowth, and articular derangement. Bone deformities may arise as a result of pressure effects from adjacent vascular lesions. Vertebral lesions have caused spinal cord compression and vertebral collapse, and the lesions may extend into joint spaces affecting range of motion. [18] Extensive lesions also have been reported on the feet, impairing ambulation. Debilitating enlargement occasionally requires amputation of the affected limb.

Blue rubber bleb nevi have been reported in the skull, CNS, thyroid, parotid, eyes, oral cavity, lungs, pleura, pericardium, musculoskeletal system, peritoneal cavity, mesentery, kidney, liver, spleen, penis, vulva, and bladder.

Recurrent thromboembolic events from shunts in visceral lesions led to the development of pulmonary hypertension in one case, [19]  and another reported pulmonary stenosis. [20]

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Complications

The rare complications of blue rubber bleb nevus syndrome (BRBNS), include, acute GI hemorrhage and central nervous system involvement, which result in death.

Pregnancy and BRBNS

Pregnancy has been shown to increase the size of vascular lesions due to the changes in the circulating hormones most evident by the third trimester. [21] Therefore, vascular malformations may manifest sporadically or increasing in size during pregnancy. [21]

In a study by Suksamanapun et al, they suggest that pregnant women, who may have the option to deliver vaginally with BRBNS, must consider the potential for underlying complications. [22] Pregnant women with BRBNS should undergo routine obstetrical care as well as obtain baseline laboratory evaluation and then monthly monitoring due to increased risk for hematological complications. [22] The studies suggest fibrinogen and D-dimers are to be monitored monthly to evaluate for associated clotting dysfunction. A thorough genital examination should also be performed in the antenatal period evaluating for genital hemangiomas or vascular malformations which may complicate the delivery process. [22]

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