Blue rubber bleb nevus syndrome: a single-center case series in 12 years

BACKGROUND: Blue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have typical cutaneous lesions, refractory anemia may be the only clinical symptom, it is easy to miss diagnosis. METHODS: A retrospective single center study was conducted on 8 patients with blue rubber bleb nevus syndrome from 2009 to 2021. Data were analyzed including clinical feature, diagnostic workup and results, gene detection, treatment and follow-up. RESULTS: Five children (62.5%) developed the disease in infancy, which initial symptoms were all cutaneous venous malformations. All children had chronic refractory anemia and gastrointestinal bleeding. Cutaneous lesions were observed in 87.5%, 1 child had multiorgan involvement. Gastrointestinal venous malformations were observed in 100%, lesions were more common in small intestine than in stomach or colon. No somatic mutation in TEK was found in our children. Diagnostic interval was on average 4.7 years. Eighty-seven-point-five percent children received at least one endoscopic or surgical intervention, however, those methods could not eradicate all the lesions and prevent relapse. Two children treated with sirolimus for more than 8 years, only 1 have satisfactory therapeutic effect. Besides, I child has growth retardation and emotional problems during follow-up. CONCLUSIONS: Blue rubber bleb nevus syndrome needs to be considered when find bluish nodular cutaneous lesions, chronic anemia or gastrointestinal bleeding of unknown origin. Capsule endoscopy is the most sensitive in diagnosing of this disease. Oral sirolimus at a relatively low dosage is effective, further comprehensively studies are required to evaluation of its efficacy, safety and the optimal dosage about the children.