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CORRESPONDENCE |
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| Year : 2014 | Volume
: 59
| Issue : 1 | Page : 98-99 |
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| Blue rubber bleb nevus syndrome: A case report |
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Tejinder Kaur1, Sumitoj Singh2
1 Department of Dermatology, Venereology and Leprology, Govt. Medical College, Amritsar, Punjab, India
2 Department of General Surgery, Govt. Medical College, Amritsar, Punjab, India
| Date of Web Publication | 23-Dec-2013 |
Correspondence Address:
Tejinder Kaur
Department of Dermatology, Venereology and Leprology, Govt. Medical College, Amritsar, Punjab
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0019-5154.123524
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How to cite this article:
Kaur T, Singh S. Blue rubber bleb nevus syndrome: A case report. Indian J Dermatol 2014;59:98-9 |
Sir,
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations affecting the skin and internal viscera. 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. [1],[2] Only about 200 hundred cases were reported till 2003. [3] Here, we report a case with multiple cutaneous vascular lesions.
A twenty year old female presented with a bluish swelling about few mm in size on left upper arm since infancy, which slowly increased to about 1 cm within a span of fourteen years. But for the last five years it had rapidly increased in size along with many new similar lesions appearing on other parts of body. It was associated with itching and mild pain on pressure but no history of bleeding or hyperhidrosis over lesions. There was no history of epistaxis, hematemesis, haemoptysis, melena, haematuria, menorrhagia, dyspnoea, seizures or headache. Bony or visual defects were absent. There was history of consanguineous marriage in parents, but family history was negative. General physical examination was normal. On cutaneous examination, multiple discrete as well as confluent, soft, compressible, slightly tender, bluish swellings ranging from 0.5 cm to 4 cm were present over face, upper limbs and soles, with the largest lesion being present on lateral aspect of left arm (about 4 cm) [Figure 1] and [Figure 2]. All routine investigations including stool for occult blood were within normal range. Histopathology showed vascular spaces lined by normal epithelium [Figure 3]. Endoscopy was not done for gastrointestinal tract involvement as she was asymptomatic and not willing for the investigation. | Figure 3: Histopathology showing vascular spaces lined by normal endothelium (H and E, ×40)
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BRBNS presents with multiple, bluish vascular swellings particularly in skin and gastrointestinal tract but may involve other viscera like liver, spleen, lungs etc. [4] Sometimes, only subcutaneous lesions are present and may be detected even in prenatal period. [4] Our case presented with cutaneous lesions only, no other systemic symptoms were present.
The exact pathogenesis is not known. The stem cell factor/c-kit signaling axis has been suggested to be involved in the constant growth of venous malformations. [5] The majority of cases is sporadic and may present at any age. Three types have been described. [2] Type I is large disfiguring venous malformation which can compress vital structures. Type II is bluish, thin - walled, blood sac, easily compressible and refills slowly on release of pressure. It is the most common type and usually presents with pain and hyperhidrosis. Type III lesion is an irregular, bluish - black macule or papule which may be punctate and blanches with pressure.
Histopathology shows large blood filled, ectatic vessels, lined by single layer of endothelium with surrounding thin connective tissue. [3]
Depending upon the viscera involved, patient can present with wide range of symptoms like anaemia, pain abdomen, massive gastrointestinal bleed, intussusception, volvulus, menorrhagia, haematuria, epistaxis, hemothorax, hemopericardium, seizures and arthragias. [4]
It should be differentiated from other vascular disorders with skin and visceral involvement like Osler-Weber-Rendu syndrome, Klipple trenaunay syndrome, Maffucci syndrome. [6]
The confirmation of diagnosis and early intervention is important to rule out future complications due to undiagnosed visceral involvement.
Various treatment options are sclerotherapy, laser, excision and recently role of second generation of c-kit specific inhibitors has been suggested. [4],[5]
 References | |  |
| 1. | Gascoyen M. Case of naevus involving the parotid gland and causing death from suffocation: Naevi of the viscera. Trans Pathol Soc 1860;11:267. 
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| 2. | Bean WB. Blue rubber-bleb nevi of the skin and gastrointestinal tract. In: Bean WB, editor. Vascular spiders and related lesions of the skin. Springfield, IL: Charles C Thomas; 1958:17-185.
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| 3. | Dobru D, Seuchea N, Dorin M, Careianu V. Blue rubber bleb nevus syndrome: Case report and literature review. Rom J Gastroenterol 2004;13:237-40.
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| 4. | Nahm WK, Moise S, Eichenfield LF, Paller AS, Nathanson L, Malicki DM, et al. Venous malformations in blue rubber bleb nevus syndrome: Variable onset of presentation. J Am Acad Dermatol 2004;50:s101-6.
[PUBMED] |
| 5. | Mogler C, Beck C, Kulozik A, Penzel R, Schirmacher P, Breuhahn K. Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome. Rare Tumors 2010;2:e36.
[PUBMED] |
| 6. | Rodrigues D, Bourroul ML, Ferrer AP, Monteiro Neto H, Gonçalves ME, Cardoso SR. Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac Med S Paulo 2000;55:29-34.
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[Figure 1], [Figure 2], [Figure 3] |
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| This article has been cited by | | 1 |
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| Fabricio Andres Lasso Andrade, Jorge Alejandro Cadena Arteaga, Viviana Lizeth Echeverry Morillo, Ángela María Fajardo Arteaga, Jenny Alexandra Jurado Pantoja, Migdalia Zamirna Zuleny Lasso Anacona, Paula Andrea Nieto Lozano, Daniela Steffany Possos Obando, María Alejandra Palacios Rodríguez, Madelen Alexandra Ortiz Cárdenas, Hermes Albeiro Ortega Díaz, Diana Yulieth Ramírez Anacona, Rodrigo Zanabria Zarmienta | | Radiology Case Reports. 2021; 16(8): 2003 | | [Pubmed] | [DOI] | |
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