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| Year : 2010 | Volume
: 53
| Issue : 1 | Page : 168-170 |
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| Blue rubber bleb nevus syndrome |
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Amita Krishnappa, Jeyachandran Padmini
Department of Pathology, MVJ Medical College & Research Hospital, India
Click here for correspondence address and email
| Date of Web Publication | 19-Jan-2010 |
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How to cite this article:
Krishnappa A, Padmini J. Blue rubber bleb nevus syndrome. Indian J Pathol Microbiol 2010;53:168-70 |
Sir,
Blue rubber bleb nevus syndrome (BRBNS), is a rare syndrome characterized by multiple venous malformations in the skin, gastrointestinal tract (GIT) and other visceral organs. [1],[2] It was first described by Gascoyen, in 1958 and Dr Bean coined the term BRBNS. [3],[4] Since then only 150 cases have been reported. Usually the patients are asymptomatic but evolution may be complicated by GIT bleeding and skeletal deformities. They may also manifest as iron deficiency anemia due to chronic blood loss from GIT lesions. We report the case of a young male with multiple lesions of skin, GIT, bone and liver who also presented with severe iron deficiency anemia.
A 25-year-old male presented with complaints of fatigue, loss of appetite, breathlessness and malena since one month. He had several hospital admissions for this problem since childhood. At two years he developed a cutaneous angioma on the back and at six he developed angioma with bony overgrowth of the right ring finger for which the finger was amputated [Figure 1]. Later in life the lesions increased in number and size and at presentation he manifested with multiple cutaneous angiomas over the back, abdominal wall and extremities [Figure 2].
On examination the lesions were dark blue to black in color, protuberant and compressible. Hematological findings suggested iron deficiency anemia. A computed tomography (CT) scan showed angiomas in the right lobe of liver. The pallor prompted the clinician to perform endoscopic examination which showed multiple, congested, small nodular lesions in the stomach, duodenum and jejunum. A biopsy of abdominal wall lesion showed a mass 1.5 X 1.5 cm with a brown cut surface. Dermis showed multiple dilated venous channels filled with blood and lined by flattened endothelium and an attenuated smooth muscle coat. One of these was occluded by an organized thrombus [Figure 3].
The diagnosis of BRBNS was made considering the clinical and histological findings. The syndrome occurs sporadically but some cases have an autosomal dominant inheritance. [5] Pathogenesis is unknown. The lesions usually appear at birth or in early childhood and tend to increase in size and number. Cutaneous lesions may develop throughout the body, predominantly on the extremities and trunk. In the GIT, the small bowel is most commonly involved. [2] Symptoms depend on the organs involved which can be varied - skin, GIT, bone, central nervous system or thyroid. Those with skin lesions are asymptomatic except for cosmetic concerns. Those with GIT lesions may either present with an iron deficiency anemia due to chronic blood loss that may be severe enough to require blood transfusions or as an emergency due to severe hemorrhage. Bone involvement leads to orthopedic complications like skeletal bowing or pathologic fracture. Recognizing typical BRBNS lesions provides a potential diagnosis and prevents unnecessary diagnostic procedures or invasive surgery.
 References | |  |
| 1. | Moodley M, Ramdial P. Blue rubber bleb nevus syndrome: case report and review of the literature. Pediatrics 1993;92:160-2.  [PUBMED] [FULLTEXT] |
| 2. | Bak YT, Oh CW, Kim JH, Lee CH. Blue rubber bleb nevus syndrome: endoscopic removal of the gastrointestinal hemangiomas. Gastrointest Endosc 1997;45:90-2. |
| 3. | Gascoyen GG. Case of nevus involving the parotid gland and causing death from suffocation: nevi of the viscera. Trans Pathol Soc Lond 1860;11:267. |
| 4. | Bean WB. Blue rubber bleb nevi of the skin and gastrointestinal tract. In: Vascular Spiders and Related Lesions of the Skin. Springfield, IL: Charles C Thomas; 1958. p.178-85. |
| 5. | McKusick VA. Blue rubber bleb nevus (Bean syndrome). In: McKusick VA, ed. Mendelian Inheritance in Man. 11th ed. Baltimore, MD: John Hopkins University Press; 1994. p. 212-3. |
Correspondence Address:
Amita Krishnappa
C/O C Gangadharan, #542, 1st Main, 6th cross, Annasandrapalya, Vinayaka nagar, HAL. Bangalore
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0377-4929.59219
[Figure 1], [Figure 2], [Figure 3] |
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