Sir,

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations that primarily affect the skin and the gastrointestinal tract [1]. It is also known as Bean syndrome, named after William Bennet Bean, who coined the term in 1958 based on the color and consistency of the lesions [2]. The authors report a case of BRBNS presenting with cutaneous vascular lesions in a 43-year-old female.

A 43-year-old woman presented to the dermatology OPD with multiple soft, bluish swellings on the back persistent for eight years, which had increased in size over the past six months. The lesions were asymptomatic, with no itching, pain, or bleeding. There was no history of epistaxis, hemoptysis, hematemesis, or melena. She was born of a non-consanguineous marriage with no relevant family history.

General physical examination revealed mild pallor. Cutaneous examination showed multiple, discrete, soft, compressible, non-tender bluish swellings about 1 cm in diameter on the lower back (Fig. 1a). Diascopy confirmed complete blanching on pressure with slow refilling (Fig. 1b). No mucosal or systemic abnormalities were found. Routine investigations showed mild anemia (hemoglobin: 9.8 g/dL); urinalysis, and stool for occult blood were normal. Ultrasonography showed well-defined hypoechoic areas with low-velocity blood flow. Abdominal ultrasound was normal. As there were no gastrointestinal symptoms, endoscopy was deferred by the patient. Based on clinical and histopathological findings, a diagnosis of BRBNS was reached, and the patient was counseled about possible systemic involvement and advised biannual follow-up.

Figure 1: (a) Multiple, discrete, soft, compressible, non-tender, bluish swellings on the lower back. (b) Diascopy showing complete blanching under pressure.

BRBNS is a rare congenital vascular disorder that may occur sporadically or as an autosomal dominant trait related to TEK gene mutations encoding the TIE2 receptor tyrosine kinase [1,3]. Both sexes are equally affected. Although most cases appear in childhood, late presentations are possible. Three lesion types are recognized: type I, large venous malformations compressing vital structures; type II, bluish, thin-walled, compressible swellings that refill slowly; and type III, irregular bluish-black macules or papules that blanch under pressure [4].

Typical cutaneous lesions are soft, compressible, blue or violaceous papules and nodules, described as “rubber blebs.” They may swell in gravity-dependent areas and cause cosmetic concern or bleeding [5]. Gastrointestinal lesions, especially in the small intestine, are the most frequent extracutaneous sites and may lead to chronic blood loss and iron-deficiency anemia [6]. In some cases, only skin lesions are seen, while others show systemic involvement such as in the liver, spleen, or lungs [7].

Histopathology reveals dilated vascular spaces lined by flattened endothelial cells within a thin fibrous stroma without cellular atypia [3]. Complications include acute hemorrhage, chronic anemia, thrombocytopenia, intussusception, and rarely disseminated intravascular coagulation. The main differential diagnoses include Klippel–Trénaunay syndrome, Maffucci syndrome, hereditary hemorrhagic telangiectasia, and multiple venous lakes [4].

There is no definitive cure; management depends on lesion location and symptom severity. Cutaneous lesions can be treated with surgical excision, pulsed-dye or Nd: YAG lasers, or sclerotherapy. Gastrointestinal involvement may require iron supplementation, blood transfusion, endoscopic or surgical intervention, and in some cases, sirolimus therapy has shown benefit in reducing lesion size and bleeding episodes [1].

BRBNS may cause significant morbidity, due to gastrointestinal bleeding. Early diagnosis, regular follow-up, and a multidisciplinary approach involving dermatologists, gastroenterologists, radiologists, and surgeons is crucial for an optimal outcome. With appropriate management, most patients achieve good symptom control and maintain normal life expectancy.

REFERENCES

1.  Baigrie D, Rice AS, An IC. Blue Rubber Bleb Nevus Syndrome [Internet]. PubMed. Treasure Island (FL):StatPearls Publishing;2022. Available from:https://www.ncbi.nlm.nih.gov/books/NBK541085

2.  Bean WB. Vascular spiders. Arch Intern Med. 1980;140:1125.

3.  Xing Y, Liu H, Ding X, Jing X. Genetic mutation and blue rubber bleb nevus syndrome:Case reports and literature review. Front Genet. 2025;16:1516562.

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

5.  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.

6.  Xu Y, Zhou B, Zhang M, Luo D. An unusual case of blue rubber bleb nevus syndrome with unilateral linear distribution. Indian J Dermatol Venereol Leprol. 2013;79:269.

7.  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(Suppl 1):S101-6.