In the latest Case Record of the Massachusetts General Hospital, a 25-year-old man presented with oral ulcers and odynophagia. On examination, there were scattered pink papules and plaques on the trunk, thighs, and buttocks and multiple raised, erythematous nodules on both shins. A diagnostic procedure was performed.
Behcet’s disease affects young adults, usually starting during the third decade of life.
- What is Behcet’s disease?
Behcet’s disease is a rare rheumatologic condition characterized by recurrent oral and genital ulcers, rash, inflammatory eye disease, and vasculitis. This disease occurs worldwide, but its incidence is highest in the Far East and Middle East regions and in countries around the Mediterranean basin.
- What are the characteristics of the oral and genital lesions that occur in patients with Behcet’s disease?
Mouth lesions that are indistinguishable from simple aphthous ulcers are seen in virtually all affected patients and may be located in the epithelial mucosa that covers the lips, cheeks, gums, tongue, palate, floor of the mouth, and pharynx, including the tonsils. However, as compared with common aphthous ulcers, oral ulcers related to Behcet’s disease generally occur in groups, are larger, and take a longer amount of time to heal, usually without scarring. Genital ulcers, which have a “punched-out” appearance, develop in approximately 80% of patients, typically involve the penile shaft and scrotum in men, and tend to heal within a month, leaving a scar; in some cases, genital ulcerations associated with Behcet’s disease can occur in the inguinal area and perineum.
Morning Report Questions
Q: What are additional clinical features of Behcet’s disease?
A: Additional cutaneous manifestations develop in the majority of patients with Behcet’s disease at some point during the course of the illness; these can include papulopustular, pseudofollicular, and acneiform eruptions and lesions resembling erythema nodosum. Arthralgias and nonerosive oligoarthritis are commonly described. In nearly half the cases of Behcet’s disease, a sterile pustule is formed within 48 hours after minor skin trauma (e.g., needle stick); this is especially common among patients from countries in the Far East or Middle East regions. This reaction, called the pathergy phenomenon, is not sensitive for but is highly specific for the diagnosis of Behcet’s disease. Inflammatory eye involvement may be seen in 25 to 75% of patients with Behcet’s disease and may be manifested as uveitis, retinal vasculitis, or optic neuritis. Less frequent manifestations include lesions involving the central nervous system, esophagogastrointestinal inflammation leading to mucosal erosions, cardiac involvement (e.g., pericarditis or myocarditis), epididymitis, and vasculitis with varying sizes of blood vessels, which may confer a predisposition to arterial and venous thrombosis.
Q: How is Behcet’s disease diagnosed and treated?
A: The diagnosis of Behcet’s disease is typically made on the basis of clinical evidence, but a skin or mucous-membrane biopsy may be performed to help confirm the diagnosis. Behcet’s disease has characteristics of both autoimmune and autoinflammatory diseases.
Treatment may target either the autoimmune or the autoinflammatory aspects of the disease, or it may target both. In addition, the choice of treatment is frequently determined on the basis of organ involvement. Mucocutaneous lesions are the most frequently occurring feature in patients with Behcet’s disease, although arthritis occurs in up to half the cases. Colchicine is often used to control these manifestations; clinical trials have shown its efficacy in treating both inflammatory arthritis and skin lesions. Isolated skin and genital lesions may be treated with topical glucocorticoids, and in cases of more severe skin involvement, azathioprine, thalidomide, and tumor necrosis factor inhibitors are alternative options, although toxic effects associated with thalidomide may preclude its use.
Systemic glucocorticoids, which are frequently used to treat Behcet’s disease, are probably more effective in controlling erythema nodosum than in managing oral and genital ulcers. Treatment of eye involvement in patients with Behcet’s disease is of paramount importance, because blindness or impaired vision may develop in up to 25% of affected patients.
Table 2. International Study Group Criteria for the Diagnosis of Behcet’s Disease.