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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
- et al.
© 2025 by the author(s). Learn more.
Abstract
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.