Blue rubber bleb nevus syndrome co-existing with celiac disease

Anaemia caused by iron deficiency is one of the most common disorders in the world. We describe a patient with iron deficiency anaemia in whom absorption was limited due to celiac disease, superimposed to chronic blood loss due to the blue rubber bleb nevus syndrome, a rare syndrome characterised by multiple cutaneous venous malformations in association with visceral lesions.

A 54-year-old patient with severe iron deficiency anaemia showed marked rubbery cutaneous lesions on the body surface, extremities, under and on the left side of the tongue as well as in the stomach and duodenum. The appearance and pathological examination of the lesions were consistent with the diagnosis of blue rubber bleb nevus syndrome (BRBNS). Biopsy of the mucosa of the duodenum showed celiac disease. No association between celiac disease and BRBNS has been previously described.

Combined loss of iron and malabsorption from the gastrointestinal tract can lead to severe iron deficiency. Early recognition of both diseases can result in early treatment. Patients can recover completely with iron suppletion and a gluten-free diet. Recognising typical BRBNS skin lesions would provide a potential diagnosis and could prevent unnecessary procedures or invasive surgery.