Article
A 27-year-old male presented with an asymptomatic slowly increasing swelling of both lips over two months (Figure 1). The swelling was diffuse, non-tender and more intense in his lower lip and associated with a few small ulcers intra-orally. Extra-orally, there was no detectable peri-oral erythema, other skin lesions, pyrexia or cervical lymphadenopathy. His medical history was clear of allergies, local trauma or infections. He used to smoke 5 to 15 cigarettes per day which he had stopped over the previous two weeks owing to episodes of abdominal pain followed by diarrhoea, nausea and vomiting. None of his close relatives had reported similar problems.
Q1. Which is the most likely cause for the lip swelling?
A1. The answer to which is the most likely cause for the lip swelling?
Crohn's disease is the likely cause. This chronic inflammatory bowel disease affects any part of the gastro-intestinal tract causing abdominal pain, diarrhoea and weight loss and may be associated with fever, nausea and vomiting. Of patients with Crohn's disease, 10–30% have oral manifestations. Oral and particularly chronic lip swelling are characteristic and often precede the abdominal problems and are sometimes associated with intra-oral mucosal tags and aphthous-like ulcerations. Our patient has all the major characteristics of this disease, such as the chronic lip swelling, oral ulcerations and the classical abdominal symptomatology.
Orofacial granulomatosis gives a very similar picture with oral features only. The duration of his swelling excludes angioedema – a condition characterized by an abrupt but short-lived swelling of skin and/or mucous membranes. Apart from the duration, the lack of known allergens or drugs use, such as ACE inhibitors and the absence of similar lesions among his close relatives, exclude angioedema (acquired or inherited types) from the diagnosis. Oedema of the lip may also be caused by trauma but the lip is then rather erythematous, inflamed and sensitive to the touch – features not seen in this patient. The absence of perioral erythema, lip desquamation and lack of allergy history excludes allergic cheilitis. Sarcoidosis may also cause a chronic, asymptomatic lip swelling but this disease is multi-systemic and has, in contrast to Crohn's disease, characteristic features of lung, lymph nodes, and other involvement.
Q2. Which of the investigations below are most useful for the diagnosis?
A2. The answer to which of the investigations below are most useful for the diagnosis?
A prick skin test is considered a useful tool for clinicians to seek various allergies in foods and cosmetics but has no value in the diagnosis of Crohn's disease. Lip biopsy is very useful and shows granulomas within the submucosa, a common histological feature both of Crohn's disease and sarcoidosis. Colonoscopy may reveal granulomatous inflammation in the colon (and ileum), while blood tests may show increased levels of calprotectin in Crohn's disease. Increased levels of serum angiotensin converting enzyme (SACE) may suggest sarcoidosis. Simple chest radiographs are useful to detect hilar adenopathy in sarcoidosis while barium sulphate fluoroscopic images are useful for detecting bowel lesions and stenosis in Crohn's disease.