DOI 10.5546/aap.2025-10937.eng
Bean syndrome in childhood: Use of sirolimus in a severe case.
Аннотация
Bean syndrome, also known as blue rubber bleb nevus syndrome, is a rare congenital disorder characterized by multiple venous malformations affecting the skin, soft tissues, and gastrointestinal tract. Its main complication is chronic gastrointestinal bleeding, which can lead to iron-deficiency anemia and a lower quality of life. We present the case of a pediatric patient diagnosed with Bean syndrome, in whom typical skin lesions and gastrointestinal involvement were identified. We describe the clinical course, the diagnostic tests performed, and the treatment regimen initiated with sirolimus. This case highlights the importance of recognizing this condition in children for early diagnosis and timely treatment, as well as the need for multidisciplinary follow-up. Sirolimus represents a promising therapeutic option for severe cases, although it requires close monitoring.
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