Indian J Pediatr DOI 10.1007/s12098-013-1312-4
SCIENTIFIC LETTER
Blue Rubber Bleb Nevus Syndrome Ramaswamy Ganesh & Madhusudana Reddy & Lalitha Janakiraman & Malathi Sathiyasekaran
Received: 7 June 2013 / Accepted: 26 November 2013 # Dr. K C Chaudhuri Foundation 2013
To the Editor: A 4-y-old girl presented with pallor and lethargy for 1 wk. There was no history of rash, fever, GI bleed, breathlessness or medications. On examination she had pallor and two bluish subcutaneous nodules on her soles (Fig. 1). Systemic examination was normal. She was transfused with packed red blood cells (PRBC) based on results of Hb 5.3 g/dL, MCV-67 fl (82–98), MCH-18.9 pg (26–34), MCHC28.3 g/dL (32–36). Her serum iron was 41 mg/dL (52–188), ferritin 5 ng/mL (7–140) and TIBC 483 μg/dL (250–400) suggestive of iron deficiency anemia (IDA). Renal function test (RFT), liver function test (LFT) and hemoglobin electrophoresis were normal. Endoscopy was suggested in view of the iron deficiency anemia (IDA) and fecal occult blood positivity, however her parents did not consent during that visit. During the 2nd visit she was re evaluated for pallor. Investigations at this time revealed low Hb 3 g/dL. She was transfused with 2 units of PRBC. UGI endoscopy was normal and colonoscopy showed multiple, about 10, bluish, vascular lesions 0.5 to 1 cm in size, distributed throughout the colon
(Fig. 2). MRI angiogram brain was normal and MRI abdomen revealed an intra muscular hemangioma in left para spinal muscle. This presentation of recurrent anemia along with cutaneous, GI and soft tissue vascular lesions suggested blue rubber bleb nevus syndrome (BRBNS). She was started on hematinics and propranolol and on one year follow up, is doing well. Blue rubber bleb nevus syndrome (BRBNS) is a rare anomaly comprising of venous malformations mainly in the skin, GIT and soft tissues but can occur in any tissue. The common features are anemia and fatiguability. The cutaneous lesions are usually painless, compressible, deep blue, rubbery blebs which are distributed over the extremities, trunk, palms and soles [1]. Overt GI bleed is another presentation and may be fatal if not recognized [2]. BRBNS is not a premalignant
R. Ganesh (*) : M. Reddy : L. Janakiraman Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hospital and The CHILDS Trust Medical Research Foundation, Nungambakkam, Chennai 34, India e-mail: [email protected] M. Sathiyasekaran Department of Pediatric Gastroenterology, Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai 34, India
Fig. 1 Two bluish subcutaneous nodules on the soles
Indian J Pediatr Contribution Dr Malathi Sathiyasekeran will act as guarantor for this paper. Conflict of Interest None. Role of Funding Source None.
References
Fig. 2 Colonoscopy showing bluish, vascular lesions 0.5 to 1 cm distributed in the colon
condition hence patients may have a normal life span. GI Endoscopy and endotherapy play a major role in confirming the diagnosis and in therapy [3]. CT and MRI complement endoscopy in identifying extra intestinal lesions [4]. Conservative therapy includes iron supplementation, octreotide and blood transfusion. Steroids, propranolol, interferon α2a, sirolimus have all been tried to decrease angiogenesis [1, 5].
1. Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue rubber bleb nevus syndrome: Successful treatment with sirolimus. Pediatrics. 2012;129: e1080–4. 2. Dwivedi M, Misra SP. Blue rubber bleb nevus syndrome causing upper GI hemorrhage: A novel management approach and review. Gastrointest Endosc. 2002;55:943–6. 3. De Bona M, Bellumat A, De Boni M. Capsule endoscopy for the diagnosis and follow-up of blue rubber bleb nevus syndrome. Dig Liver Dis. 2005;37:451–3. 4. Kassarjian A, Fishman SJ, Fox VL, Burrows PE. Imaging characteristics of blue rubber bleb nevus syndrome. AJR Am J Roentgenol. 2003;181:1041–8. 5. Dieckmann K, Maurage C, Faure N, Margulies A, Lorette G, Rudler J, et al. Combined laser-steroid therapy in blue rubber bleb nevus syndrome: Case report and review of the literature. Eur J Pediatr Surg. 1994;4:372–4.
SCIENTIFIC LETTER
Blue Rubber Bleb Nevus Syndrome Ramaswamy Ganesh & Madhusudana Reddy & Lalitha Janakiraman & Malathi Sathiyasekaran
Received: 7 June 2013 / Accepted: 26 November 2013 # Dr. K C Chaudhuri Foundation 2013
To the Editor: A 4-y-old girl presented with pallor and lethargy for 1 wk. There was no history of rash, fever, GI bleed, breathlessness or medications. On examination she had pallor and two bluish subcutaneous nodules on her soles (Fig. 1). Systemic examination was normal. She was transfused with packed red blood cells (PRBC) based on results of Hb 5.3 g/dL, MCV-67 fl (82–98), MCH-18.9 pg (26–34), MCHC28.3 g/dL (32–36). Her serum iron was 41 mg/dL (52–188), ferritin 5 ng/mL (7–140) and TIBC 483 μg/dL (250–400) suggestive of iron deficiency anemia (IDA). Renal function test (RFT), liver function test (LFT) and hemoglobin electrophoresis were normal. Endoscopy was suggested in view of the iron deficiency anemia (IDA) and fecal occult blood positivity, however her parents did not consent during that visit. During the 2nd visit she was re evaluated for pallor. Investigations at this time revealed low Hb 3 g/dL. She was transfused with 2 units of PRBC. UGI endoscopy was normal and colonoscopy showed multiple, about 10, bluish, vascular lesions 0.5 to 1 cm in size, distributed throughout the colon
(Fig. 2). MRI angiogram brain was normal and MRI abdomen revealed an intra muscular hemangioma in left para spinal muscle. This presentation of recurrent anemia along with cutaneous, GI and soft tissue vascular lesions suggested blue rubber bleb nevus syndrome (BRBNS). She was started on hematinics and propranolol and on one year follow up, is doing well. Blue rubber bleb nevus syndrome (BRBNS) is a rare anomaly comprising of venous malformations mainly in the skin, GIT and soft tissues but can occur in any tissue. The common features are anemia and fatiguability. The cutaneous lesions are usually painless, compressible, deep blue, rubbery blebs which are distributed over the extremities, trunk, palms and soles [1]. Overt GI bleed is another presentation and may be fatal if not recognized [2]. BRBNS is not a premalignant
R. Ganesh (*) : M. Reddy : L. Janakiraman Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hospital and The CHILDS Trust Medical Research Foundation, Nungambakkam, Chennai 34, India e-mail: [email protected] M. Sathiyasekaran Department of Pediatric Gastroenterology, Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai 34, India
Fig. 1 Two bluish subcutaneous nodules on the soles
Indian J Pediatr Contribution Dr Malathi Sathiyasekeran will act as guarantor for this paper. Conflict of Interest None. Role of Funding Source None.
References
Fig. 2 Colonoscopy showing bluish, vascular lesions 0.5 to 1 cm distributed in the colon
condition hence patients may have a normal life span. GI Endoscopy and endotherapy play a major role in confirming the diagnosis and in therapy [3]. CT and MRI complement endoscopy in identifying extra intestinal lesions [4]. Conservative therapy includes iron supplementation, octreotide and blood transfusion. Steroids, propranolol, interferon α2a, sirolimus have all been tried to decrease angiogenesis [1, 5].
1. Yuksekkaya H, Ozbek O, Keser M, Toy H. Blue rubber bleb nevus syndrome: Successful treatment with sirolimus. Pediatrics. 2012;129: e1080–4. 2. Dwivedi M, Misra SP. Blue rubber bleb nevus syndrome causing upper GI hemorrhage: A novel management approach and review. Gastrointest Endosc. 2002;55:943–6. 3. De Bona M, Bellumat A, De Boni M. Capsule endoscopy for the diagnosis and follow-up of blue rubber bleb nevus syndrome. Dig Liver Dis. 2005;37:451–3. 4. Kassarjian A, Fishman SJ, Fox VL, Burrows PE. Imaging characteristics of blue rubber bleb nevus syndrome. AJR Am J Roentgenol. 2003;181:1041–8. 5. Dieckmann K, Maurage C, Faure N, Margulies A, Lorette G, Rudler J, et al. Combined laser-steroid therapy in blue rubber bleb nevus syndrome: Case report and review of the literature. Eur J Pediatr Surg. 1994;4:372–4.
