Recurrent lip swelling: a diagnostic challenge

A Caucasian woman in her late 20s was referred to the allergy/chest clinic by her general practitioner with an 8-month history of recurrent facial angio-oedema. She had no history of urticaria or airways symptoms and denied any similar problems previously. She had no family history of similar illness and was not on any regular medications. There was no history of atopy. Initially, a clinical diagnosis of idiopathic angio-oedema was made. Despite being treated with several antihistamines with doses equivalent to 40 mg of cetirizine/day, her problem had failed to respond satisfactorily. Later on, she also revealed history of intermittent gastrointestinal symptoms such as abdominal pain and diarrhoea. Routine investigations were unremarkable. The patient was referred to a dermatology clinic and a diagnosis of orofacial granulomatosis was suggested: a rare granulomatous disease presenting with lip enlargement, which may or may not be associated with Crohn's disease. A biopsy of the oral mucosa was consistent with this diagnosis.