A Nd:YAG laser in the treatment of vascular malformations of the skin in a patient with blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by vascular malformations on the skin and frequently in the gastrointestinal (GI) system, but they may affect other organs as well. Lesions in the GI system often lead to bleeding and subsequent anaemia [1, 2]. In 1860 Gascoyen was the first to report the association between GI and skin lesions [3], and in 1958 William B. Bean presented a similar case and coined the term “blue rubber bleb nevus syndrome” [4]. To date, over 200 cases of BRBNS have been reported. Cases of BRBNS are found in all races, but it is mostly observed in Caucasians. It affects both sexes equally. Most of BRBNS appear to be sporadic, with few cases showing congenital autosomal dominant inheritance and the recently discovered relationship with somatic mutations in the gene encoding TIE2 (TEK) [5]. BRBNS may be present at birth or develop in childhood, with possible later complications, e.g. GI haemorrhage and orthopaedic abnormalities [6].
We report a case of a 45-year-old woman with numerous, diffuse vascular nodules on her trunk, extremities, and on the mucosal membrane. All lesions were blue with diameters ranging from 5 to 38 mm (Figure 1). Upon physical examination, all lesions were soft and easily compressible, but after removing the pressure they rapidly filled back to their previous shape.
Vascular lesions had been present since early childhood and had grown in number until puberty. During her childhood the patient underwent many operations (Figure 2). Mainly large lesions, which were disfiguring her face or those located in the groin and extremities and had the biggest potential of bleeding after trauma, were referred for surgery. But in case of numerous nodules, diffused all over the skin surface, surgical excision of all lesions would be impossible due to technical limitations. Our patient was hospitalized many times due to recurrent anaemia. There were never episodes of serious bleeding from the GI tuck. In ultrasound examinations as well as in computed tomography, in the left liver lobe there was a cystic lesion with septations without visible flow, measuring 90 × 95 × 130 mm. The remaining liver parenchyma was without lesions and with normal echotexture (Figure 3).
The patient was offered treatment for existing skin lesions using a neodymium-doped yttrium aluminium garnet (Nd:YAG) laser. The Nd:YAG laser is a device that emits light with the wavelength of 1064 nm. Laser...


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