Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. The appearance of one large venous malformation (VM) in the neonatal period has suggested a characteristic finding of this syndrome. The objective of the study was to identify a specific clinical sign in the congenital venous malformations (VMs) of the BRBNS to distinguish them from the conventional VMs. Clinical histories of all patients diagnosed with BRBNS were reviewed, including those who presented a large VM at birth. Clinical characteristics of congenital VM associated with BRBNS were recorded. Five patients with BRBNS were found to have a large VM since birth. All of them presented a fern-shaped patch over the surface of the VM.
Conclusion: The finding of this macroscopic sign in the evaluation of the newborn with a VM could be considered as a guiding syndromic herald which should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications. What is Known: • BRBNS is a rare vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. • Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. What is New: • Recognition of a fern-shaped patch in neonates with a VM should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications.
Keywords: Blue rubber bleb nevus syndrome; Congenital; Dominant venous malformation; Fern-shaped patch; Hallmark; Newborn.