Blue rubber bleb nevus syndrome: a case report and literature review

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.

Keywords: Anemia; Blue rubber bleb nevus syndrome; Gastrointestinal bleeding; Hemangioma; Vascular malformations.

Figures

Figure 1

Bluish nodules on upper (A) (arrow) and lower limbs, eyelid (B) (arrows), lip (C) (arrows); vary from 0.5 to 3.0 cm.

Figure 2

On endoscopy, glottis and esophagus (A) showed multiple bluish hemangiomatas (arrow), and no bleeding was seen; one lesion (2.0 cm × 2.5 cm) with no fresh bleeding was seen in the colon (B) (arrow), and lesions were also observed on anus (C) (arrow).

Figure 3

Computed tomography images. Head computed tomography (CT) (A, B) showed lesions (arrows) on the scalp, left tempora, and orbit, the brain was normal. Chest CT (C) of the root of the neck, clavicle area and superior mediastinum showed multiple nodular, lumpish lesions, and a soft tissue (arrow) component that was consistent with a vascular malformation and hemic calculus. L: Left; P: Posterior.