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

ABSTRACT:

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

SUBMITTER: Xia H 

PROVIDER: S-EPMC8649602 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature