Blue rubber bleb nevus syndrome

Introduction

Blue rubber bleb nevus syndrome (BRBNS) is characterised by venous nevi in skin and gas-trointestinal tract.[1] Bleb- like, bluish nevi resembling soft, erectile phiebectasias in appearance and con-sistency which refill after being compressed with feeling of dermal herniation, can be spontaneously painful or tender, and may depict supralesional hyperhidrosis, are seen on tongue, upper limbs, lower limbs and face.[3] Size of nevi varies from 0.5-2.0 cms. Larger ones are lobulated with slight scaling of their surface, sessile/ semi- pedunculated, spongy and compressible.[4] Haemangiomas of buccal mucosa and soft palate in association with BRBNS were also re-ported.[4] Anaemia may be the presenting feature and investigations may disclose chronic blood loss from the intestine.[5]

Case Report

Case 1: A 10 - year- old male presented with multiple, bluish, bleb- like, nodular lesions scattered all over the trunk, dorsa of hands and feet and tongue since early childhood. Nodules were deep bluish, soft, 0.5-5.0 cms in size, spherical with smooth/verrucous surface. Nodules were partially compressible with feeling of dermal herniation and refilled slowly on releasing the pressure. The lesions were painful and tender and sweating was observed on pressure. There was history of pain in hands and feet during acute episodes of melena and hematemesis since 7½ years. Family history was negative. The child was a product of nonconsanguinous marriage and uneventful vaginal delivery. Milestones and IQ were normal. Systems were normal except severe anaemia. Hb was 5.5gm%, TLC was 16000/mm3, DLC was N65, L28, E3, M4. Platelets, bleeding time, clotting time and ultrasound of abdomen were normal. X-ray hands and feet showed soft tissue swelling only. On endo-scopy, oesophagus was normal, stomach showed multiple 3-7.5mm bluish haemangiomata and doudenum showed one such lesion. Barium meal follow through was normal. CT scan showed mild cerebral atrophy. Histopathology of the nodule showed large irregular spaces containing RBCs and fibrinous material in the lower dermis and subcutis with thin endothelium and rim of fibrous tissue.

Case 2: A 34-year - old man presented with multiple, soft, compressible, bluish swellings 2mm to 2cms in size over the right thigh in a segmental fashion since 20 years. There was no history of gastro-intestinal tract bleeding and patient refused biopsy. Family history was negative. All systems and routine investigations were normal.

Discussion

Vascular nevi of BRBNS are easily differenti-ated from bleeding punctiform angiomas of Osler--Rendu-Weber disease where lesions are asymptom-atic, not elevated, some have the appearance of ar-terial spiders with positive family history. Maffucci′s haemangiomas are differentiated because of associ-ated dyschondroplasia and bone deformities. Other vascular lesions showing segmental or dermatomal distribution are naevus flammeus, unilateral telang-iectasias, angiokeratoma corporis circumscriptum and angioma serpiginosum.[6] BRB naevi can be differen-tiated from the above conditions because of their characteristic features such as bluish, bleb-like, pain-ful, tender, hyperhidrotic, compressible nodules with feeling of dermal herniation and associated gastro-intestinal tract involvement.