This 15-year boy complains that the left side of his lower lip has been swollen for 6 months. Although he has a history of Crohn’s disease, he has no bowel symptoms and is growing normally. What’s the diagnosis?
Diagnosis and Clinical Presentation
Diagnosis: Oral Crohn’s Disease Crohn’s disease (CD) is a chronic inflammatory bowel disease that can involve any segment of the gastrointestinal tract. The ileocecal region is the most common site of inflammation, followed by the colon, the small intestine, the stomach and the mouth1. Oral CD is a form of orofacial granulomatosis that may precede, manifest concomitantly with, or arise after intestinal involvement (1). The prevalence of CD is 50 per 100,000 with the highest incidence seen in the white populations of northern Europe and North America and is more predominant in Jews. The incidence of CD is increasing and there is no gender predilection. The peak age of onset is between 15 – 25 years and may rarely occur in childhood. The most important risk factor is a positive family history with 15% of affected individuals having a first-degree relative (1,2). Oral CD presents most commonly as diffuse swelling of one or both lips, cobblestoning of the buccal mucosa, buccal mucosal tags,linear or diffuseoral mucosal ulceration, or localized facial swelling (3).Oral aphthous ulcers and pyostomatitis vegetans may also develop.. These lesions may result in fibrosis and adhesion formation. Orofacial granulomatosis may be the presenting sign of intestinal CD in 28 -60% of cases (3,4). Although oral lesions are the least common site, 5-15% with patients of orofacial granulomatosis will manifestsigns and symptoms (2).
Epidemiology and pathogenesis
The exact cause of CD remains unknown. It has been suggested that patients may possess an inherited susceptibility to mounting an abnormal immunologic response to triggering events involving genetics, environmental factors and infectious processes (5). Interferon-γ (IFN-γ) is produced by activated Th1 lymphocytes resulting in the release of pro-inflammatory cytokines, includinginterleukin-1 (IL-1) and tumor necrosis factor-α (TNF-α) whichmay amplify the immune response5. As a result, chemotactic agents attract large numbers of neutrophils and histiocytes to the inflamed mucosa, leading to the formation of noncaseating granulomas.
A child or adolescent who presents with painless orolabial swelling may pose a diagnostic dilemma, and a thorough history and careful physical examination are of paramount importance. Painless orolabial swelling may be the presenting feature of disparate pathophysiologic processes including infections, irritant or allergic contact dermatitis, and systemic inflammatory diseases such as CD and sarcoidosis. When swelling becomes recurrent or chronic, a biopsy should be performed to aid in the diagnosis. A recent study found that 37% of patients who presented with features suggestive of oral CD had asymptomatic gastrointestinal involvement. If a child or adolescent has no history of CD but shows signs suggestive of a granulomatous chelitis, further investigation and careful monitoring of the patient is recommende (6).
The prognosis of oral CD is variable and many oral lesions have a very protracted course(7). The treatment may also depend on the presence and extent of bowel disease. If there is significant bowel involvement, treatment is aimed at eliminating the gastrointestinal inflammation with systemic corticosteroids and is often combined with sulfasalazine. Azathioprine, 6-mercaptopurine, methotrexate, adalimumab and infliximab are alternative medications that have been used successfully to treat active bowel disease. First line treatment for isolated orolabial swelling due to CD consists of topical or intralesional steroids.
Our ptient had no evidence of bowel disease and was happy with a decrese in size of the left lower lip after the daily application of a high potency topical steroid for 6 weeks.
Persistent asymptomatic lip swelling may be triggered by granulomatous cheilitis associated with Crohn's disease.
- Goldman L, Ausiello DA. Cecil Medicine 23rd edition: Saunders Elsevier; 2008.
- Bolognia JL, Jorizzu JL, Rapini RP. Dermatology. 2nd edition: Mosby Elsevier; 2008.
- Williams AJK, Wray D, Ferguson A. The Clinical Entity of Orofacial Crohn’s Disease. Quarterly Journal of Medicine. May 1991;79(289):451-458.
- Plauth M, Jensse H, Meyle J. Oral manifestations of Crohn’s disease. An analysis of 79 cases. Journal of Clinical Gastroenterology. Feb 1991; 13(1):29-37.
- Thoreson R, Cullen JJ. Pathophysiology of inflammatory bowel disease: an overview. Surgical Clinicsof North America. Jun 2007;87(3):575-85.
- Scully C, Cochran KM, Russell RI, Ferguson MM, Ghouri MAK, Lee FD, MacDonald DG, McIntyre PB. Crohn’s disease of the mouth: an indicator of intestinal involvement. Gut 1982;23:198-201.
- Dupuy A, Cosnes J, Revuz J, Delchier JC, Gendre JP, Cosnes A. Oral Crohn Disease, Clinical Characteristics and Long-term Follow-up of 9 Cases. Archives of Dermatology 1999;135:439-442.