Objective: To probe into the clinical characteristics of blue rubber bleb nevus syndrome (BRBNS) in children and the clinical efficacy of sirolimus. Methods: Clinical data of 5 children with BRBNS from Jan. 2019 to Apr. 2022 were extracted. Literature were retrieved through PubMed

CNKI and Wanfang database to analyze the clinical characteristics

diagnosis

treatment and prognosis of BRBNS until Apr. 2022. Results: Five cases of BRBNS had cutaneous venous malformations and gastrointestinal lesions

accompanied by severe small cell hypochromic anemia

characterized by pale complexion and slow growth. Endoscopic diagnosis of BRBNS was 100%

with lesions distributed in the stomach

duodenum

jejunum

ileum

and colon. Treatment required multiple blood transfusions

oral propranolol

local intervention or sclerotic treatment of the lesion. Most of the lesions recurred from 3 to 6 months

the symptoms were improved after using sirolimus. The initial dose of sirolimus was 0. 5 to 1. 0 mg/ m2 per day

the dose was adjusted to 2 mg/ m2 per day according to the blood concentration to reach the target concentration of 5. 0 to 10. 0 ng/ mL

the hemoglobin was maintained to a stable level. Conclusion: The clinical symptoms of BRBNS in children are severe and easy to recur

sirolimus can be used as a safe and effective treatment for BRBNS in children.