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Multiple bluish papules and nodules in a 12-year-old child with lower gastrointestinal bleeding: a diagnostic challenge
- Brazao, Claudia;
- Mancha, Dora;
- Sun, Lanyu;
- Antunes-Duarte, Sofia;
- Fernandes, Sonia;
- Rodrigues, Luis;
- Rodrigues, Marcia;
- de Vasconcelos, Pedro;
- Soares-de-Almeida, Luis;
- Filipe, Paulo
© 2025 by the author(s). Learn more.
Published Web Location
https://doi.org/10.5070/D331265296Abstract
Blue rubber bleb nevus syndrome (BRBNS) and familial multiple glomuvenous malformations (GVM) are genetic disorders characterized by multiple cutaneous vascular malformations. Unlike multiple GVM, BRBNS comprises a risk of systemic involvement with vascular malformations in other organs, potentially causing life-threatening bleeding. The correct distinction between these two conditions is challenging due to their clinical similarity, but it is crucial in light of the pivotal differences in prognosis and follow-up. We report a case of multiple glomuvenous malformations in a child with lower gastrointestinal bleeding that posed a thought-provoking diagnosis.