A 35-year-old immigrant from Turkey comes to the physician for painful mouth ulcers that occur frequently and are accompanied by malaise and poor appetite. He was diagnosed with "canker sores" many years ago and has tried different oral rinse solutions. He also reports muscle aches and poor sleep. One year ago, he had anterior uveitis; laboratory studies at that time revealed no abnormalities. His other medical problems include acid reflux disease, constipation, and acne. The patient takes over-the-counter antacids and fiber supplements. He has a 15-pack-year smoking history but does not use alcohol or illicit drugs.
The patient's vital signs are normal. Physical examination shows 2 large ulcers on the buccal mucosa. There are papular and pustular skin lesions on the face. He has no joint swelling or deformities. He refuses laboratory work-up because each time blood is drawn he develops "skin bumps and infection."
Which of the following conditions is the most likely diagnosis?

Question

A 35-year-old immigrant from Turkey comes to the physician for painful mouth ulcers that occur frequently and are accompanied by malaise and poor appetite.  He was diagnosed with "canker sores" many years ago and has tried different oral rinse solutions.  He also reports muscle aches and poor sleep.  One year ago, he had anterior uveitis; laboratory studies at that time revealed no abnormalities.  His other medical problems include acid reflux disease, constipation, and acne.  The patient takes over-the-counter antacids and fiber supplements.  He has a 15-pack-year smoking history but does not use alcohol or illicit drugs.
The patient's vital signs are normal.  Physical examination shows 2 large ulcers on the buccal mucosa.  There are papular and pustular skin lesions on the face.  He has no joint swelling or deformities.  He refuses laboratory work-up because each time blood is drawn he develops "skin bumps and infection."
Which of the following conditions is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_992c_7d6a_853d_e1c773993da4_MD0002_00 This patient has recurrent painful oral ulcers, uveitis, acneiform skin lesions, and positive pathergy test, all features suggestive of Behçet's disease. Behçet's disease is an inflammatory disease more common in men from the "Silk Road" region (eastern Asia to the Mediterranean Sea). All patients have recurrent and painful oral ulcerations. About 75% have genital ulcerations and/or skin lesions (eg, acne and erythema nodosum). Genital ulcerations often leave scarring, which is rarely seen in any other condition. Some patients present very early with superficial or deep vein thrombosis. Although most symptoms of Behçet's disease are caused by vasculitis, the renal and peripheral nervous systems are not affected, as occurs in other vasculitides. There are no laboratory studies to diagnose Behçet's disease; it is diagnosed clinically based on symptoms and pathergy test (Table). Nonspecific inflammatory markers such as ESR and CRP may be elevated. Treatment of Behçet's disease includes colchicine, glucocorticoids, or immunosuppressive agents. (Choice B) Patients with familial Mediterranean fever typically present with paroxysmal episodes of fever and concomitant serositis (peritonitis, pleuritis, or pericarditis). This patient does not have a fever or complaints of abdominal pain, making familial Mediterranean fever less likely. (Choice C) Herpes simplex infection can cause recurrent oral ulcers, keratitis, and, sometimes, uveitis. However, this patient's skin lesions and positive pathergy test are not consistent with herpes infection. (Choice D) Sarcoidosis involves the lungs in > 90% of patients and can present with uveitis, joint pain, and skin lesions (eg, erythema nodosum). However, painful mucocutaneous lesions and normal chest x-ray are not common with sarcoidosis. (Choice E) Patients with systemic lupus erythematosus can present with oral ulcers; however, these are usually painless. Behçet's disease is most likely given the positive pathergy test. Educational objective: Behçet's disease is characterized by recurrent oral (> 3 times in 1 year) and genital ulcers, ocular and skin lesions, and positive pathergy test. Some patients present very early with superficial or deep vein thrombosis. Diagnosis is made clinically, and treatment consists of colchicine, glucocorticoids, or immunosuppressive agents. __________ References: Criteria for diagnosis of Behçet's disease: International Study Group for Behçet's Disease. (http://www.ncbi.nlm.nih.gov/pubmed/1970380) Behçet's syndrome: disease manifestations, management and advances in treatment. (http://www.ncbi.nlm.nih.gov/pubmed/17334337)

A 35-Year-Old Immigrant from Turkey Comes to the Physician for Painful