Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare, multifocal venous malformation. It most commonly affects the skin and the subcutaneous tissues or the viscera, especially the gastrointestinal tract, and less often the central nervous system. Diagnosis is based on clinical, radiological, and histopathological features. There is currently no medically curative treatment; however, sirolimus, an oral immunosuppressant drug, has recently been used effectively in patients with BRBNS.
Case Report: Presently described is a case of neonatal BRBNS. The infant was born with diffuse skin and visceral organ involvement. In addition to supportive therapy, such as blood product transfusions, and excisions of the lesions, propranolol, corticosteroid and sirolimus treatment was administered, but without response.
Conclusion: The patient died as a result of massive bleeding in the endotracheal tube, possibly due to lesions located in the lungs. To the best of our knowledge, this has not previously been reported in the literature.