Indian Journal of Pathology and Microbiology

: 2015  |  Volume : 58  |  Issue : 2  |  Page : 258--259

Blue rubber bleb nevus syndrome: A rare case report

Ankur Kumar, Satya R Negi, Kusum Vaishnav, Kanchan Jain 
 Department of Pathology, Dr. S. N. Medical College, Jodhpur, Rajasthan, India

Correspondence Address:
Dr. Ankur Kumar
Room No. 108, Intern Hostel, M.D.M. Hospital Campus, Shastri Nagar, Jodhpur - 342 003, Rajasthan

How to cite this article:
Kumar A, Negi SR, Vaishnav K, Jain K. Blue rubber bleb nevus syndrome: A rare case report.Indian J Pathol Microbiol 2015;58:258-259

How to cite this URL:
Kumar A, Negi SR, Vaishnav K, Jain K. Blue rubber bleb nevus syndrome: A rare case report. Indian J Pathol Microbiol [serial online] 2015 [cited 2021 Jan 24 ];58:258-259
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Blue rubber bleb nevus syndrome (BRBNS) is a rare condition with about 200 cases reported in the literatures. [1] It is characterized by numerous malformations of the vascular system that significantly involve the skin, gastrointestinal (GI) tract, soft tissue and other internal organs of the body. The exact etiology of this disease remains unknown. Most cases occur sporadically. A few reported cases have been associated with an autosomal dominant inheritance pattern with a locus found on chromosome 9p. [2] Sex-linked transmission has also been reported in some families. The lesions are usually present at birth or appear in early childhood, and they tend to increase in size and frequency with age. BRBNS has been reported to occur in people of all races. [3]

We present a case of BRBNS diagnosed in a 12 days Muslim female neonate, was brought in the pathology department for skin biopsy examination with complaints of GI bleeding and multiple and deep blue cutaneous nodular lesions. At the physical examination, the patient was extremely pale with multiple, deep blue, bleb like, soft, compressible, protuberant nodular cutaneous lesions varying from few mm to 3 cm in size all over body since birth [Figure 1].{Figure 1}

Blood picture revealed severe iron deficiency anemia, but other test was within normal limit. Patient also had a history of blood transfusion. There was no any significant complaint during pregnancy and baby was delivered by normal labor. No, any other children have a similar history in the family. Coagulation profile was not performed, in this case.

Histopathological report revealed cavernous hemangiomas seen in superficial and lower dermis and subcutaneous tissue with large irregular spaces containing red blood cells and fibrinous material. Spaces were lined by a single layer of thin endothelial cells [Figure 2].{Figure 2}

Magnetic resonance imaging (MRI) report showed numerous small and large T2-weighted hyperintense cutaneous malformations. GI endoscopy, colonoscopy and ophthalmological examination were not performed in our case.

Typical skin lesions appear as small blue spots of 1-3 cm in size. They are covered by skin and may feel hard or rubbery. Most of the lesions are found on the limbs, trunk, perineum and soles of the feet, although they can be found anywhere on the body. The internal organ system most frequently involved is the GI system, for which GI bleeding is a common symptom. [4] Therefore, GI bleeding can lead to anemia, and severe cases of hemorrhage may require transfusion therapy. [4] BRBNS is an important condition due to the potential for significant bleeding, which can be fatal. As usual, the main clinical features leading to the diagnosis of BRBNS in our patient were vascular malformations of the skin and GI bleeding. There have been a variety of therapeutic strategies included conservatively with iron supplement and blood transfusion for anemia. Endoscopic laser photocoagulation, sclerosis, band ligation, and polypectomy for treating the GI lesions.

The mortality and morbidity associated with BRBNS depends on the extent of visceral organ involvement. Most patients have a normal life span. To date, the literature supports no evidence of a carcinogenetic or a fatal conversion of this condition. [5]

It is concluded that, Histopathological examination reveals vascular tissue with tortuous, blood filled ectatic vessels, and MRI studies confirm nature of cutaneous venous malformation. Considering Clinical, Histopathological and Radiological finding, for the confirm diagnosis of BRBNS.


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