Efficacy and safety of sirolimus in the treatment of blue rubber bleb naevus syndrome in paediatric patients.
Bin ZhangL LiN ZhangM ZhaoY LiuL WeiL MaZi-Gang XuPublished in: Clinical and experimental dermatology (2019)
Blue rubber bleb naevus syndrome (BRBNS) is an extremely rare venous malformation that often manifests as multiple haemangioma-like lesions in the skin and gastrointestinal tract. The drug sirolimus plays a key role in the signalling pathway of angiogenesis and subsequent development of BRBNS and its use has been described in several case reports. We present a case series of four patients with BRBNS who exhibited good treatment response to sirolimus. All four patients were administered oral sirolimus at doses of 1.0-1.5 mg/m2 /day with a target drug level of 5-10 ng/mL and median treatment duration of 20 months. All patients had a reduction in the size of the lesions and a normalization of coagulopathy with tolerable drug adverse reactions at follow-up. Sirolimus may be effective and safe in paediatric patients with BRBNS. Further prospective studies are suggested to evaluate the long-term effectiveness of this drug.
Keyphrases
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- prognostic factors
- emergency department
- randomized controlled trial
- systematic review
- intensive care unit
- peritoneal dialysis
- case report
- endothelial cells
- combination therapy
- vascular endothelial growth factor
- replacement therapy
- smoking cessation