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| Year : 2015 | Volume
: 58
| Issue : 2 | Page : 259-260 |
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| Commentary on blue rubber bleb nevus syndrome |
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Kim Vaiphei
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
Click here for correspondence address and email
| Date of Web Publication | 17-Apr-2015 |
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How to cite this article:
Vaiphei K. Commentary on blue rubber bleb nevus syndrome. Indian J Pathol Microbiol 2015;58:259-60 |
Editor,
The lesions of blue rubber bleb nevus syndrome (BRBNS) have often been termed "angiomas" or "hemangiomas" in the literature. BRBNS is a rare vascular anomaly syndrome usually consisting of multifocal venous malformations. The lesions are most frequently observed in the skin, soft tissue, gastrointestinal tract (GIT) though it may involve any other site. In 1860, Gascoyne first described an association between cavernous malformation in skin and similar lesions in GIT. [1] In 1958, William Bean further fully characterized the condition by giving the eponym "Bean syndrome." [2] The lesions are generally small measuring less than 1-2 cm, blue to purple in color, soft and compressible. Bean was the first to draw attention to the unique quality of these compressible cutaneous lesions that he labeled as "blue rubber-bleb nevi." BRBNS describes a rare clinical entity that presents with cutaneous and visceral hemangiomas. These lesions may appear at birth, in early childhood or later in adulthood, and the lesions may increase in size and frequently with age. It affects both sexes equally. BRBNS can present with a few to hundreds of cutaneous and pathognomonic GIT lesions, most commonly involving the small intestine. Nonetheless, GI lesions of BRBNS are more clinically relevant than the skin and soft tissue lesions. [3] It is an important syndrome because of its potential for serious fatal bleeding. Some may present with severe GI bleed while most GI bleeds tend to be slow, minor, chronic, and occult resulting in iron deficiency anemia. Infrequent GI complications reported are volvulus, intussusception, and intestinal infarction. [4],[5] Underlying etiology of this rare syndrome is still obscure. Although there are reported familial cases that appear to have an autosomal dominant transmission associated with chromosome 9p, majority of the cases are sporadic. [6] Mogler et al. observed c-kit to be detectable in the smaller vessels within the lesions suggesting stem cell factor c-kit signaling axis might be involved. [7] Vascular lesions of BRBNS are consistent with congenital vascular malformations rather than proliferative tumors and hence anti-angiogenic agents such as corticosteroids and interferon are not effective. However congenital malformations once resected should not recur. Based on this concept, a rational treatment to eliminate the bleeding points in patients with BRBNS is an aggressive approach encompassing removal of all the lesions, more so in the GIT. Surgical resection has been condemned as overtly aggressive and unhelpful because of the belief that these lesions recur after removal. [8],[9] A variety of therapeutic strategies have been proposed in the management of GI bleeds which include anti-angiogenic agents and endoscopic approaches. However, no particular method has been demonstrated to be reliably effective in reducing bleeding or in permanently controlling blood loss.
Rarely, BRBNS may also affect brain, kidney, lung, eye, bone, and other critical organs. The clinical presentation will be related to the strategic location of the lesion. Rarely, it may present with hemostatic abnormalities due to consumption coagulopathy and thrombocythemia. [10] Differential diagnoses will include all vascular tumors either benign or malignant, vascular anomalies associated with congenital or systemic diseases, and acquired sporadic lesions. BRBNS needs to be differentiated from hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), Klippel-Trenaunay syndrome, and Maffucci syndrome. [11] These diseases are characterized by different forms of vascular malformations. Osler-Weber-Rendu syndrome is characterized by bleeding punctiform angiomas, recurrent epistaxis, and telangiectasia with a positive family history. Maffucci syndrome presents with diffuse vascular malformations in skin and soft tissues associated with bone malformations and chondrodysplasia. In Klippel-Trenaunay- Weber syndrome More Details, there is a varicosities associated with hypertrophia and deformities of soft tissue and bone. Cutaneous lesions in BRBNS do not usually bleed; surgery, sclerotherapy or embolization tends to provide good cosmetic result. In the absence of massive GIT bleeding, a conservative treatment is sufficient.
Jin et al. [11] carried out extensive review of BRBNS. According to their review of the literature, patients from United States contributed maximum, that is, 20%, followed by Japan, Spain, Germany, China, and France. Reports from other countries though infrequent were also identified and BRBNS is reportedly very rare in the Blacks. Just more than 200 cases are reported in the English literature. The lesions are often present from birth or early childhood. The oldest patient reported is 82 years old and the youngest being an unborn baby, which was possible to be identified with the advanced radiological techniques. Zin et al. also observed that involvement of various organs was a common feature in a single patient. According to Jin et al., [11] involvement of multiple sites in a given patient was not a rare phenomenon and the recorded number of sites Involved was 16, which included scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus. Hence, a thorough multi-systemic examination and approach appears to be a mandatory step in BRBNS patient, not to overlook a lesion present in an unsuspected site(s).
Prognosis of BRBNS depends on the location, extend of the disease and organs involved. Most patients can live a long life with the disease, but with limitation of quality of life due to repeated GI bleed, oral drug therapy, and blood transfusions. Jin et al. [11] in their review identified two patients died of BRBNS-one due to massive GI bleed and another due to cerebral hemorrhage. Malignant transformation of these lesions has not been reported so far.
 References | |  |
| 1. | Gascoyen M. Case of naevus involving the parotid gland, and causing death from suffocation. Naevi of the viscera. Trans Pathol Soc (Lond) 1860;11:267.  |
| 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. p. 17-185. |
| 3. | 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. |
| 4. | Sala Felis T, Urquijo Ponce JJ, López Viedma B, Pertejo Pastor V, Berenguer Lapuerta J. Blue nevus syndrome: Endoscopic treatment by sclerosis and banding ligation. Gastroenterol Hepatol 1999;22:136-8. |
| 5. | Gonzalez D, Elizondo BJ, Haslag S, Buchanan G, Burdick JS, Guzzetta PC, et al. Chronic subcutaneous octreotide decreases gastrointestinal blood loss in blue rubber-bleb nevus syndrome. J Pediatr Gastroenterol Nutr 2001;33:183-8. |
| 6. | Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, et al. A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet 1995;32:197-9. |
| 7. | 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. |
| 8. | Sandhu KS, Cohen H, Radin R, Buck FS. Blue rubber bleb nevus syndrome presenting with recurrences. Dig Dis Sci 1987;32:214-9. |
| 9. | Place RJ. Blue rubber bleb nevus syndrome: A case report with long-term follow-up. Mil Med 2001;166:728-30. |
| 10. | Apak H, Celkan T, Ozkan A, Yildiz I, Aydemir EH, Ozdil S, et al. Blue rubber bleb nevus syndrome associated with consumption coagulopathy: Treatment with interferon. Dermatology 2004;208: 345-8. |
| 11. | Jin XL, Wang ZH, Xiao XB, Huang LS, Zhao XY. Blue rubber bleb nevus syndrome: A case report and literature review. World J Gastroenterol 2014;20:17254-9. |
Correspondence Address:
Dr. Kim Vaiphei
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0377-4929.155353
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