A 16-year-old girl presented to her pediatrician with a 1-year history of intermittent diarrhea and constipation, occasional bright red blood noted in her stools, pain on defecation, and an 8-lb unintentional weight loss. She also complained of difficulty swallowing, heartburn, and profound fatigue. She denied having oral lesions, rashes, joint pains or leg swelling, or eye pain.
She had an unremarkable past medical history, surgery history, and family history.
Examination by her pediatrician revealed hemorrhoids with skin tags. She was prescribed a topical hemorrhoid cream but had a poor response. She was then referred to a surgeon, and the skin tags were excised. In the days that followed, she developed pain on defecation. An anal fissure was noted and a sphincterotomy was performed. The pain persisted and became associated with fever. She was found to have a perianal abscess, so an incision and drainage were performed.
She continued to have perianal pain. The pain was so severe that she was finding it unbearable to sit. Pain was exacerbated by her bowel movements. Because there was no relief even with the use of hydrocodone/acetaminophen at home, she was referred to the emergency department (ED).
She was afebrile with stable vital signs. Her weight was 51.3 kg (25th percentile) and height was 150 cm (3rd percentile). Her physical examination was notable for mild tenderness to palpation of the left lower quadrant. Inspection of her anus demonstrated a large posterior skin tag, tenderness, and induration, with purulent fluid drainage in the perianal area.
During the hospital admission, a comprehensive evaluation was performed. Laboratory investigations revealed anemia, leukocytosis, and high C-reactive protein levels. Stool cultures were negative.
Magnetic resonance imaging showed a thick-walled terminal ileum with no significant enhancement, suggestive of chronic inflammation (Figure 1). No fistulae or abscesses were identified, but because of the high suspicion of a fistula, an examination under anesthesia was done. It revealed a superficial fistula and perianal abscess. The abscess was drained and a seton placed. Endoscopy showed gastroduodenitis, colitis, and ileitis (Figure 2). Pathology showed noncaseating granulomas.
Figure 1. Magentic resonance image shows a thick-walled terminal ileum with no significant enhancement.All images courtesy of Prita H. Mohanty, MD. Reprinted with permission.
Figure 2. Esophagogastroduodenoscopy and colonoscopy findings. (Top): Antral erythema with a thickened area adjacent to the pyloric region. (Middle): Scattered areas of erythema in the descending colon. (Bottom): Erythema, edema and ulceration in the terminal ileum.
Crohn’s Disease with Perianal Involvement
The patient was treated with prednisone, metronidazole, and topical tacrolimus. Prior to starting anti-tumor necrosis factor (TNF) therapy (infliximab), a purified protien derivativ (PPD) was placed and Varicella and hepatitis B titers were sent. The results were normal. Within 2 months of treatment with infliximab, she experienced healing of her fistula, and she now receives anti-TNF therapy every 8 weeks with continued clinical improvement.
Crohn’s disease (CD) is an immune-mediated inflammatory disease that can affect any portion of the gastrointestinal tract from the oral cavity to the anus. The disease usually is localized to the ileum, cecum, and colon. Gastritis and upper intestinal tract inflammation are present in 30% of patients. The patient described had gastritis, duodenitis, colitis, and ileitis as well as perianal disease. The most common presenting symptoms are abdominal pain (67%–75%); weight loss (55%–65%); diarrhea (30%–65%); growth failure (30%); hematochezia (20%–43%); and extraintestinal manifestations (20%).
Diagnosis of CD involves clinical suspicion based upon history, examination, and screening laboratory data combined with endoscopic and radiologic findings. Physical examination may document presence of short stature; low body mass index; clubbing; pallor; scleral injection; oral aphthous ulcers; abdominal tenderness, fullness, and/or mass; perianal disease; and arthritis. Laboratory testing should be done to evaluate for infection with Salmonella; Shigella; Campylobacter; Escherichia coli 0157:H7; Yersinia; Clostridium difficile; Giardia; and Cryptosporidium. Findings suggestive of inflammatory bowel disease include elevated erythrocyte sedimentation rate and C-reactive protein; anemia; leukocytosis; hypoalbuminemia; and guaiac-positive stool. Anti-Saccharomyces cerevisiae antibodies (ASCA) (specificity, 88%–97%), perinuclear anti-neutrophil cytoplasmic antibodies (pANCA), anti–bacterial flagellin (anti-CBir), and anti–outer membrane porin from Escherichia coli (anti-OmpC) may be positive. Stool lactoferrin and calprotectin (markers of neutrophil inflammation) are often elevated. Radiology, upper intestinal endoscopy, and colonoscopy with mucosal biopsies for histologic assessment are used to define the nature and extent of intestinal inflammation and to distinguish ulcerative colitis from CD.
Perianal lesions in CD can range from single simple tags to complex networks of fistulae and abscesses. The reported frequency of perianal disease in pediatric patients with CD is 25%. Involvement of the perianal region is more common in patients with colonic (particularly rectal) or ileocolonic disease compared to those with disease restricted to the small bowel.1 The patient described here had ileocolonic involvement with perianal disease.
Perianal disease can precede symptomatic intestinal disease by years. When perianal disease is the initial presentation of CD, as in this case, it may be difficult to distinguish from the hemorrhoids and superficial fissures in the absence of other features of CD.
Diagnosis of underlying CD should be considered in the following groups: a) patients whose perianal disease (hemorrohids and/or superficial fissure) does not resolve with routine management; b) patients with unusual presentations (eg, anal fissures that are not located in the midline, complex anal fistulas, or large, indurated hemorrhoids); and c) patients with the presence of symptoms that might suggest CD, such as skin tags and fistulas. 2
Perianal Skin Tags
Hypertrophic skin tags in the anal canal are commonly observed in perianal Crohn’s disease and may be misinterpreted as external hemorrhoids (Figure 3). Close attention must be paid to better characterize the morphologic characteristics of skin tags associated with CD compared to those associated with hemorrhoids and non-CD tags. The CD skin tags are sometimes referred to as “elephant ears” due to their irregular appearance. They are generally flesh-colored and painless, usually have a smooth surface, may have a cyanotic appearance, and may have associated bleeding.3 These skin tags may show granulomas if a biopsy is performed. Treatment of perianal skin tags should be local and conservative; surgical intervention is generally not recommended. Hemorrhoidectomy should be avoided because of possible poor wound healing and damage to the anal sphincter. In a patient with a clinical presentation that may be suggestive of inflammatory bowel disease, such as in this case, the presence of perianal skin tags must raise suspicion of underlying CD.
Figure 3: Hypertrophied skin tags seen in perianal Crohn’s disease.
Approximately 10% of newly diagnosed pediatric patients with Crohn’s disease have perianal fistulae and/or abscesses at the time of diagnosis. Fistulae can present with persistent anal pain, painful defecation, and perianal openings with purulent discharge. Although perianal and perirectal fistulae are most common, other types of fistulae include enteroenteric, enterovesical, enterovaginal, and enterocutaneous. The key to successful management is to establish adequate drainage of all abscesses and to control fistula healing. An imaging modality should provide a virtual road map for this purpose. The gold standard for evaluation of the anatomy of fistulae traditionally has been probing under general anesthesia. Less invasive imaging methods, such as fistulography, barium studies, magnetic resonance imaging, computed tomography, and ultrasound, are generally less accurate. That said, MRI of the pelvis can be very useful for identifying and monitoring the course of perirectal fistulas and abscesses.
An anal fissure is an ulcer in the lining of the anal canal distal to the dentate line. In addition to inflammatory bowel disease, the differential diagnosis of anal fissures includes constipation (passage of hard stool), sexually transmitted diseases (eg, Chlamydia, gonorrhea, syphilis) and immunodeficiency states. In Crohn’s disease, anal fissures develop in 20% of patients. They mostly occur in the posterior midline. They heal spontaneously in about 80% of patients. Treatment of anal fissures should be aimed at relieving symptoms. Sitz baths reduce the anal sphincter tone. For patients whose symptoms are not alleviated, antibiotics can be added. Fissures that are resistant to conservative treatment may require surgery.
Anorectal abscess presents with anal pain, worsened by defecation, and purulent rectal discharge. It necessitates immediate incision and drainage. The goal of therapy is to drain the abscess cavity without damaging the anal sphincter. A seton drain can be inserted at this time if the fistulous tract is easily identified. The aim of the seton is to allow the fistula to drain and prevent further abscess formation.
Medical management of Crohn’s disease involves drugs to induce remission, such as corticosteroids (prednisone, methylprednisolone, budesonide); anti-TNF therapy (infliximab, adalimumab); and calcineurin inhibitors (tacrolimus, cyclosporine). Drugs used in maintaining remission are immunomodulators (6-mercaptopurine/azathioprine, methotrexate) and anti-TNF therapy (infliximab, adalimumab). There is lack of strong evidence in pediatrics for the use of 5-aminosalicylic acid drugs (sulfasalazine, mesalamine) and antibiotics (ciprofloxacin, metronidazole) in Crohn’s disease. However, there is evidence for benfit of metronizaole in adult patients with perianal disease and this antibiotic is often used in this circumstance.
Inflammatory bowel disease should be considered in a child or adolescent presenting with loose stools or bloody diarrhea, abdominal pain, weight loss or growth failure, perianal disease, anemia, arthritis, or delayed onset of puberty. Perianal fistulae, large tags, or recurrent perianal abscesses in any child warrant investigation to exclude Crohn’s disease. Hemorrhoids should be distinguished from hypertrophied skin tags with Crohn’s disease. Perianal skin tags rarely require treatment, and surgical intervention is generally not recommended.
- Rankin GB, Watts HD, Melnyk CS, Kelley ML Jr, . National Cooperative Crohn’s Disease Study: extraintestinal manifestations and perianal complications. Gastroenterology. 1979;77(4 Pt 2):914.
- Bitton A, Belliveau P. Perianal complications of Crohn’s disease. Available at: www.uptodate.com. Accessed March 31, 2012.
- Bonheur J, Braunstein J, Korelitz B, Panagopoulos G. Anal skin tags in inflammatory bowel disease: new observations and a clinical review. Inflamm Bowel Dis. 2008;14:1236–1239. doi:10.1002/ibd.20458 [CrossRef]