Blue rubber bleb naevus syndrome: a rare cause of iron deficiency anaemia

Abstract

We report a case in an adolescent male patient with a history of chronic fatigue, headache and unexplained iron deficiency anaemia since 2007. Numerous bluish-black lesions were found over his body surface. A surgical scar from a previous lumpectomy with a small lump were noted at the left submandibular region and another smaller lesion on the left lobe of the thyroid was also palpated. His most recent blood indices displayed the presence of moderately severe iron deficiency anaemia. Endoscopic evaluation exhibited multiple vascular lesions throughout the gastrointestinal tract. MRI of the brain revealed an irregular intracranial vascular lesion at the cerebellopontine angle. Further work-up with abdominal CT demonstrated the absence of similar lesions in the extraintestinal abdominal organs. Putting these together with histological findings, the diagnosis of blue rubber bleb naevus syndrome was confirmed. The patient was treated conservatively at this point and future management planning was discussed with him.