Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
 
Users online: 2796  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
Table of Contents 
CORRESPONDENCE
Year : 2014  |  Volume : 59  |  Issue : 1  |  Page : 98-99
Blue rubber bleb nevus syndrome: A case report


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 Publication23-Dec-2013

Correspondence Address:
Tejinder Kaur
Department of Dermatology, Venereology and Leprology, Govt. Medical College, Amritsar, Punjab
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.123524

Rights and Permissions



How to cite this article:
Kaur T, Singh S. Blue rubber bleb nevus syndrome: A case report. Indian J Dermatol 2014;59:98-9

How to cite this URL:
Kaur T, Singh S. Blue rubber bleb nevus syndrome: A case report. Indian J Dermatol [serial online] 2014 [cited 2019 Dec 14];59:98-9. Available from: http://www.e-ijd.org/text.asp?2014/59/1/98/123524


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 1: Multiple bluish swellings over the arm

Click here to view
Figure 2: Discrete bluish lesions over the trunk

Click here to view
Figure 3: Histopathology showing vascular spaces lined by normal endothelium (H and E, ×40)

Click here to view


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 Top

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.  Back to cited text no. 1
    
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.  Back to cited text no. 2
    
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.  Back to cited text no. 3
[PUBMED]    
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.  Back to cited text no. 4
[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.  Back to cited text no. 5
[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.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
Print this article  Email this article
 
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (1,193 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    References
    Article Figures

 Article Access Statistics
    Viewed2233    
    Printed18    
    Emailed0    
    PDF Downloaded84    
    Comments [Add]    

Recommend this journal