Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India.

Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report.

What was known?

Blue rubber bleb nevus syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract.

Introduction

Blue rubber bleb nevus syndrome (BRBNS) is an uncommon condition with multiple venous malformations of the skin, gastrointestinal tract, and other visceral sites including the liver, spleen, bladder, spinal cord, lungs, and bones.[1] Clinically, the lesions are characteristically blue/purple soft compressible nodules with a rubbery feel. They are dome shaped, almost nipple-like “rubber blebs,” which may coalesce to form large masses. The gastrointestinal tract is the most common visceral site affected, and lesions share the same pathology as the cutaneous lesions. They are sessile or polypoid and affect all levels of the gastrointestinal tract, in particular, the small intestine. They are prone to bleeding and may cause a significant anemia requiring transfusion and iron replacement therapy.

Case Report

A 21-year-old lady presented to our outpatient department with multiple nontender, soft, rubbery, and compressible swellings distributed over the right side of the chest and right upper limb in a blaschkoid distribution. These lesions first appeared on the right side of the chest during her childhood and they gradually increased in number and size with age. There was a history of occasional bleeding, when subjected to trivial trauma. Her medical and family history were unremarkable except for the presence of recurrent episodes of painless bleeding per rectum (hematochezia). Cutaneous examination revealed multiple blue to purple papulonodules of variable sizes, with diameters ranging from 2 to 15 mm, distributed along right side of chest, the right hand and forearm [Figures 1–3]; which on palpation yielded a feeling of cutaneous herniation. The affected limb was swollen, which when palpated yielded a “bag-of-worm” like feeling. Overlying skin was smooth with hyperhidrosis at the sites. Size of the lesions increased on aligning them with gravity. Clinically, the swellings were diagnosed to be blue rubber bleb nevi [Figures 4 and 5], which were present in the background of cutaneous vascular malformation. The patient refused to undergo skin biopsy. Hair, nails, and mucosa were spared.

Figure 1

Bluish papulo-nodule over the right breast

Figure 3

Multiple blue to purple cutaneous swellings affecting the right arm

Figure 4

Blue rubber bleb nevus on the background of swollen right arm

Figure 5

Photograph depicting the confinement of the lesions to the upper extremity of right side

Multiple skin colored swellings affecting the right hand

The hematological evaluation revealed iron deficiency anemia. The routine stool test showed a positive result for occult blood. Doppler ultrasound hinted the presence of a low-flow lesion, which was suggestive of vascular malformation. Computed tomography angiography of right upper extremity and upper chest revealed extensive venous angiomatous malformation in right superior extremity and right axilla, right side of upper chest wall, and right side of the neck with direct filling of contrast from upper part of superior vena cava. The malformation involved subcutaneous fat planes, muscles, and intermuscular portions of the right upper chest wall, right axilla, and right superior extremity [Figures 6 and 7]. Colonoscopy detected the presence of vascular polyps in her sigmoid colon [Figure 8], which presumably led to the recurrent episodes of hematochezia. Currently, the patient has been put under oral iron supplements and has been referred to the Department of Plastic Surgery.

Figure 6

Computed tomography angiogram of showing extensive vascular malformation affecting the right upper limb along with right-upper trunk.

Figure 7

CT Angiogram showing extensive vascular malformation affecting the right upper limb along with right-upper trunk.

Figure 8

Colonoscopy showing polypoidal growths in the sigmoid colon

Discussion

Blue rubber bleb nevus syndrome is an uncommon condition characterized by multiple venous malformations affecting the skin and internal viscera, gastrointestinal tract involvement being the most common. It was first described by Gascoyen in 1806, but in 1958, William Bennet Bean coined the term “blue rubber nevus syndrome” for its color and consistency.[23] BRBNS affects both sexes and is usually sporadic, although autosomal dominant inheritance has been reported. Bean described three types of lesions in BRBNS, which are often noted at birth or during the neonatal period, although they can present later. The first type is the compressible, red-blue, nipple-like lesions. The second type is blue-black nonblanching macular lesions and the third type is subcutaneous, vascular, soft tissue lesions.[3] In our case, the patient presented with lesions akin to the first type.

In the English literature, most of the lesions are diffusely distributed all over the body, with blue subcutaneous nodules as the characteristic lesions. However, in our case, the skin lesions are distributed unilaterally, affecting only the right side of the body. The lesions on the upper limb are also arranged in a linear fashion making the case even rarer. To the best of our knowledge, there is only a single report of BRBNS with linear, unilateral distribution in the world literature,[4] and this happens to be the second case showing such a unique distribution.

Complications include acute hemorrhage, iron deficiency anemia following chronic bleeding, thrombocytopenia, disseminated intravascular coagulation, intussusception, volvulus, bowel infarction, skeletal bowing, pathologic fracture, bony overgrowth, articular derangement and pain due to phleboliths.[5678] The presence of cutaneous lesions should alert clinicians on the possible presence of internal vascular malformations. In our present case, the recurrent episodes of hematochezia possibly occurred due to underlying vascular malformations (polyps) present in her sigmoid colon, which were detected on colonoscopy.

Several therapeutic modalities have been reported for treatment of BRBNS. These include cryotherapy, sclerotherapy, surgery, and newly-reported long-pulsed neodymium: Yttrium-aluminium-garnet 1064 nm laser for cutaneous lesions.[9] We have referred our patient to the Department of Plastic Surgery for possible surgery.

While the coexistence of cutaneous and gastrointestinal venous malformations are the hallmark of BRBNS, venous malformations in additional sites, such as the oral cavity, central nervous system, endocrine glands, musculoskeletal system, kidney, bladder, liver, spleen, heart, and lungs, are also recognized.[10] The extra-cutaneous and gastrointestinal lesions may present with hemoptysis, hematuria and skeletal deformities or be asymptomatic.

The differential diagnoses include Maffucci syndrome, venous lakes, Osler Weber Rendu syndrome or hereditary hemorrhagic telangiectasia, disseminated hemangiomatosis and Kaposi sarcoma.[71112] BRB nevi can be differentiated from the above conditions based on the latter's characteristic features such as bluish, bleb-like, painful, tender, hyperhidrotic, compressible nodules with feeling of dermal herniation and associated gastrointestinal tract involvement. Similar findings could be elicited in our case also.

Thus, BRBNS is a rare syndrome. A complete history and physical evaluation are a must to make a successful diagnosis to help in treatment planning and to prevent fatal potential complications. Treatment is symptomatic and conservative. Linear, unilateral distribution of BRBNS is extremely uncommon; this happens to be the second such case in the English literature to the best of our knowledge. The rarity of the presentation has prompted this current report.

What is new?

Unilateral, linear or blaschkoid distribution of blue rubber bleb nevus syndrome is extremely uncommon; this happens to be the first such case from India.