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A 25-Year-Old with Mouth Ulcers
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A 25-Year-Old with Mouth Ulcers
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Language: EN.
Segment:0 .
[upbeat intro music]
DR. HANDY: Hi, welcome to Harrison's Podclass, where we discuss important concepts in internal medicine. I'm Cathy Handy.
DR. WIENER: And I'm Charlie Wiener, and we're coming to you from the Johns Hopkins School of Medicine.
DR. HANDY: Episode 54: A 25-Year-Old with Mouth Ulcers.
DR. WIENER: Hi Cathy. So, today's case is a 25-year-old woman who presents with a complaint of painful mouth ulcerations. She describes these lesions as shallow ulcers that last for one to two weeks. They've been appearing and disappearing for the past six months. Over the last two days, she's also had a painful red eye, which is why she's coming to the clinic today. On further history, she reports that she's had no genital ulcerations, no arthritis, skin rashes, or photo sensitivity.
DR. WIENER: So, any thoughts so far?
DR. HANDY: Well, mouth ulcers are common, and often due to a self-limited viral infection. The painful red eye has my attention though. There are a number of syndromes that can involve the mouth and eye membranes. Two big categories are infectious causes or rheumatologic causes. What does the physical exam show?
DR. WIENER: Okay, on physical examination, she appears well-developed and in no distress. She has a temperature of 37.6, a heart rate of 86, a blood pressure of 126 over 72, and a respiratory rate of 16 breaths per minute, with a normal room-air oxygen saturation. Examination of her oral mucosa reveals two shallow ulcers with a yellow base on the buccal mucosa. Her neck shows no adenopathy, and her cardiopulmonary examination is normal.
DR. WIENER: She has no arthritis, but medially, on the right thigh, there is a palpable cord in the saphenous vein. It's not terribly tender, and there's no redness over it. She's actually sent urgently for an ophthalmologic examination, and that's consistent, by report, with anterior uveitis. So, what do you think?
DR. HANDY: Obviously there is something multisystem going on. The most notable findings so far are the anterior uveitis and the venous abnormality.
DR. WIENER: Okay, tell me more about anterior uveitis.
DR. HANDY: Remember the eye is structured with three layers, the outer layer includes the sclera and cornea, the inner layer is the retina. The middle layer is the uvea, and it consists of the iris, the ciliary body, and the choroid. The uvea is a vascular layer involving the anterior structures of the eye. Uveitis is also sometimes called iritis or iridocyclitis. There are a number of infectious autoimmune and systemic inflammatory causes of anterior uveitis.
DR. WIENER: What are some that come immediately to mind to you?
DR. HANDY: So, some that I always think of, you can get anterior uveitis in sarcoidosis, ankylosing spondylitis, and juvenile rheumatoid arthritis. You also see it in inflammatory bowel disease, psoriasis, reactive arthritis, and Behcet's disease. On the infectious side, you can see it in herpes infectious, syphilis, Lyme disease, tuberculosis, and leprosy.
DR. WIENER: Okay, so that's a pretty wide differential. I assume you'd now like some lab tests.
DR. HANDY: Yes, some basic labs, and then also some of the rheumatologic tests.
DR. WIENER: Laboratory studies reveal a sed rate of 68 seconds. Her white blood cell count is 10.2, with a differential of 68% neutrophils, 28% lymphocytes, and 4% monocytes. The ANA and the anti-double-stranded DNA are negative. C3 is 89, C4 is 24, and all of her routine chemistries are normal. The question now asks, what is the most likely diagnosis? And the options are A: Behcet's syndrome;
B: bullous pemphigoid;
C: discoid lupus erythematosus;
D: Sjogren's syndrome;
E: systemic lupus erythematosus, or SLE. What do you think?
DR. HANDY: Well, as I mentioned before, the differential is wide. Infectious diseases aren't listed here, so we need to narrow our differential to the rheumatologic list. But with this information and these choices, the answer is A, Behcet's syndrome.
DR. WIENER: Tell me why you came to that conclusion.
DR. HANDY: Behcet's syndrome is a multi-system disorder that is marked by oral and genital ulcerations and ocular involvement. It was named after a Turkish dermatologist that described the syndrome. This disorder affects males and females equally, and is more common in persons of Mediterranean, Middle Eastern, or Far Eastern descent. Approximately 50% of these persons have circulating autoantibodies to human oral mucosa.
DR. HANDY: The clinical features are quite varied. The presence of recurrent aphthous ulcerations is essential for the diagnosis. Most of these patients have primarily oral ulcerations, although genital ulcerations are more specific for the diagnosis. The ulcers are generally painful, can be shallow or deep, and last generally for one to two weeks. Other skin involvement may occur, and other skin findings that you might see are folliculitis, erythema nodosum, and vasculitis.
DR. HANDY: Eye involvement is the most dreaded complication because it may progress rapidly to blindness. It often presents as panuveitis, iritis, retinal vessel occlusion, or optic neuritis.
DR. WIENER: Okay, so the presence of the recurrent oral ulcers and the anterior uveitis is what led you to Behcet's.
DR. HANDY: Yes. Out of those.
DR. WIENER: And do we know the cause of Behcet's syndrome?
DR. HANDY: Not exactly. We know that people with HLA-B51 gene are at higher risk of developing Behcet's, but most people with the gene do not develop the disease. Interestingly, familial cases are not the rule, consisting only about 5% of cases. So it's likely that the disease develops in at-risk individuals exposed to some infectious or environmental exposure.
DR. WIENER: So, on clinical exam, this patient seemed to have a saphenous vein thrombosis. Is that part of the syndrome?
DR. HANDY: Yeah, I'm glad you brought that up again because I forgot to mention that. So, deep venous thrombosis can be present in about a quarter to a third of these patients. And additionally, neurologic involvement occurs in up to 10%.
DR. WIENER: So you said we don't know exactly the cause of Behcet's, but is there any specific diagnostic laboratory test?
DR. HANDY: No, not really. Lab tests are useful to rule out other causes, but there's no one single diagnostic test for Behcet's. The laboratory findings are nonspecific, with elevations in the ESR and the white blood cell count. The ANA and other autoimmune tests will be negative.
DR. WIENER: So, I've heard about the pathergy test in Behcet's, tell me about that, and is it useful?
DR. HANDY: A pathergy test is a simple test in which the forearm is pricked with a small sterile needle. Occurrence of a small red bump or pustule at the site of needle insertion constitutes a positive test. A positive pathergy test can be supportive of the diagnosis of Behcet's, but it's not diagnostic by itself. However, the test is really neither sensitive nor specific. Only a minority of Behcet's patients demonstrate the pathergy phenomenon. And other diseases may cause a pathergy reaction.
DR. WIENER: Before we finish, why don't you briefly just mention the other choices, and why they were not relevant in this case.
DR. HANDY: Well, bullous pemphigoid is a polymorphic autoimmune subepidermal blistering disease that's usually seen in the elderly. Initial lesions may consist of urticarial plaques, and most patients eventually display tense blisters on either normal-appearing or erythematous skin. The lesions are usually distributed over the lower abdomen and groin, and the flexor surfaces of the extremities. Oral mucosal lesions are found in some patients.
DR. HANDY: Discoid lupus erythematosus is the cutaneous form of SLE, and is characterized by atrophic depigmented plaques and patches that are surrounded by hyperpigmentation and erythema, in association with scarring and alopecia. And Sjogren's syndrome is a chronic slowly progressive autoimmune disease characterized by lymphocytic infiltration of the exocrine glands that results in xerostomia and dry eyes.
DR. HANDY: So, none of the features of those diseases are present here, which makes those very unlikely.
DR. WIENER: Good, so the teaching points in this case are that Behcet's disease is characterized by recurrent mouth or genital ulcers, and may be associated with uveitis, venous thrombosis, or neurologic findings. There are no diagnostic laboratory findings, so it is a syndromic diagnosis, or a diagnosis of exclusion. Individuals with HLA-B51 are at the highest risk of developing the disease, but most patients with this HLA complex do not develop the disease.
DR. HANDY: And if you want to learn more, you can check out the Harrison's chapter on Behcet's disease. [outro music] [Mr. Shanahan] This is Jim Shanahan, publisher at McGraw Hill. Harrison's Podclass is brought to you by McGraw Hill's Access Medicine, the online medical resource that delivers the latest trusted content from the best minds in medicine.
DR. HANDY: Go to accessmedicine.com to learn more.
Segment:0 .
[upbeat intro music]
DR. HANDY: Hi, welcome to Harrison's Podclass, where we discuss important concepts in internal medicine. I'm Cathy Handy.
DR. WIENER: And I'm Charlie Wiener, and we're coming to you from the Johns Hopkins School of Medicine.
DR. HANDY: Episode 54: A 25-Year-Old with Mouth Ulcers.
DR. WIENER: Hi Cathy. So, today's case is a 25-year-old woman who presents with a complaint of painful mouth ulcerations. She describes these lesions as shallow ulcers that last for one to two weeks. They've been appearing and disappearing for the past six months. Over the last two days, she's also had a painful red eye, which is why she's coming to the clinic today. On further history, she reports that she's had no genital ulcerations, no arthritis, skin rashes, or photo sensitivity.
DR. WIENER: So, any thoughts so far?
DR. HANDY: Well, mouth ulcers are common, and often due to a self-limited viral infection. The painful red eye has my attention though. There are a number of syndromes that can involve the mouth and eye membranes. Two big categories are infectious causes or rheumatologic causes. What does the physical exam show?
DR. WIENER: Okay, on physical examination, she appears well-developed and in no distress. She has a temperature of 37.6, a heart rate of 86, a blood pressure of 126 over 72, and a respiratory rate of 16 breaths per minute, with a normal room-air oxygen saturation. Examination of her oral mucosa reveals two shallow ulcers with a yellow base on the buccal mucosa. Her neck shows no adenopathy, and her cardiopulmonary examination is normal.
DR. WIENER: She has no arthritis, but medially, on the right thigh, there is a palpable cord in the saphenous vein. It's not terribly tender, and there's no redness over it. She's actually sent urgently for an ophthalmologic examination, and that's consistent, by report, with anterior uveitis. So, what do you think?
DR. HANDY: Obviously there is something multisystem going on. The most notable findings so far are the anterior uveitis and the venous abnormality.
DR. WIENER: Okay, tell me more about anterior uveitis.
DR. HANDY: Remember the eye is structured with three layers, the outer layer includes the sclera and cornea, the inner layer is the retina. The middle layer is the uvea, and it consists of the iris, the ciliary body, and the choroid. The uvea is a vascular layer involving the anterior structures of the eye. Uveitis is also sometimes called iritis or iridocyclitis. There are a number of infectious autoimmune and systemic inflammatory causes of anterior uveitis.
DR. WIENER: What are some that come immediately to mind to you?
DR. HANDY: So, some that I always think of, you can get anterior uveitis in sarcoidosis, ankylosing spondylitis, and juvenile rheumatoid arthritis. You also see it in inflammatory bowel disease, psoriasis, reactive arthritis, and Behcet's disease. On the infectious side, you can see it in herpes infectious, syphilis, Lyme disease, tuberculosis, and leprosy.
DR. WIENER: Okay, so that's a pretty wide differential. I assume you'd now like some lab tests.
DR. HANDY: Yes, some basic labs, and then also some of the rheumatologic tests.
DR. WIENER: Laboratory studies reveal a sed rate of 68 seconds. Her white blood cell count is 10.2, with a differential of 68% neutrophils, 28% lymphocytes, and 4% monocytes. The ANA and the anti-double-stranded DNA are negative. C3 is 89, C4 is 24, and all of her routine chemistries are normal. The question now asks, what is the most likely diagnosis? And the options are A: Behcet's syndrome;
B: bullous pemphigoid;
C: discoid lupus erythematosus;
D: Sjogren's syndrome;
E: systemic lupus erythematosus, or SLE. What do you think?
DR. HANDY: Well, as I mentioned before, the differential is wide. Infectious diseases aren't listed here, so we need to narrow our differential to the rheumatologic list. But with this information and these choices, the answer is A, Behcet's syndrome.
DR. WIENER: Tell me why you came to that conclusion.
DR. HANDY: Behcet's syndrome is a multi-system disorder that is marked by oral and genital ulcerations and ocular involvement. It was named after a Turkish dermatologist that described the syndrome. This disorder affects males and females equally, and is more common in persons of Mediterranean, Middle Eastern, or Far Eastern descent. Approximately 50% of these persons have circulating autoantibodies to human oral mucosa.
DR. HANDY: The clinical features are quite varied. The presence of recurrent aphthous ulcerations is essential for the diagnosis. Most of these patients have primarily oral ulcerations, although genital ulcerations are more specific for the diagnosis. The ulcers are generally painful, can be shallow or deep, and last generally for one to two weeks. Other skin involvement may occur, and other skin findings that you might see are folliculitis, erythema nodosum, and vasculitis.
DR. HANDY: Eye involvement is the most dreaded complication because it may progress rapidly to blindness. It often presents as panuveitis, iritis, retinal vessel occlusion, or optic neuritis.
DR. WIENER: Okay, so the presence of the recurrent oral ulcers and the anterior uveitis is what led you to Behcet's.
DR. HANDY: Yes. Out of those.
DR. WIENER: And do we know the cause of Behcet's syndrome?
DR. HANDY: Not exactly. We know that people with HLA-B51 gene are at higher risk of developing Behcet's, but most people with the gene do not develop the disease. Interestingly, familial cases are not the rule, consisting only about 5% of cases. So it's likely that the disease develops in at-risk individuals exposed to some infectious or environmental exposure.
DR. WIENER: So, on clinical exam, this patient seemed to have a saphenous vein thrombosis. Is that part of the syndrome?
DR. HANDY: Yeah, I'm glad you brought that up again because I forgot to mention that. So, deep venous thrombosis can be present in about a quarter to a third of these patients. And additionally, neurologic involvement occurs in up to 10%.
DR. WIENER: So you said we don't know exactly the cause of Behcet's, but is there any specific diagnostic laboratory test?
DR. HANDY: No, not really. Lab tests are useful to rule out other causes, but there's no one single diagnostic test for Behcet's. The laboratory findings are nonspecific, with elevations in the ESR and the white blood cell count. The ANA and other autoimmune tests will be negative.
DR. WIENER: So, I've heard about the pathergy test in Behcet's, tell me about that, and is it useful?
DR. HANDY: A pathergy test is a simple test in which the forearm is pricked with a small sterile needle. Occurrence of a small red bump or pustule at the site of needle insertion constitutes a positive test. A positive pathergy test can be supportive of the diagnosis of Behcet's, but it's not diagnostic by itself. However, the test is really neither sensitive nor specific. Only a minority of Behcet's patients demonstrate the pathergy phenomenon. And other diseases may cause a pathergy reaction.
DR. WIENER: Before we finish, why don't you briefly just mention the other choices, and why they were not relevant in this case.
DR. HANDY: Well, bullous pemphigoid is a polymorphic autoimmune subepidermal blistering disease that's usually seen in the elderly. Initial lesions may consist of urticarial plaques, and most patients eventually display tense blisters on either normal-appearing or erythematous skin. The lesions are usually distributed over the lower abdomen and groin, and the flexor surfaces of the extremities. Oral mucosal lesions are found in some patients.
DR. HANDY: Discoid lupus erythematosus is the cutaneous form of SLE, and is characterized by atrophic depigmented plaques and patches that are surrounded by hyperpigmentation and erythema, in association with scarring and alopecia. And Sjogren's syndrome is a chronic slowly progressive autoimmune disease characterized by lymphocytic infiltration of the exocrine glands that results in xerostomia and dry eyes.
DR. HANDY: So, none of the features of those diseases are present here, which makes those very unlikely.
DR. WIENER: Good, so the teaching points in this case are that Behcet's disease is characterized by recurrent mouth or genital ulcers, and may be associated with uveitis, venous thrombosis, or neurologic findings. There are no diagnostic laboratory findings, so it is a syndromic diagnosis, or a diagnosis of exclusion. Individuals with HLA-B51 are at the highest risk of developing the disease, but most patients with this HLA complex do not develop the disease.
DR. HANDY: And if you want to learn more, you can check out the Harrison's chapter on Behcet's disease. [outro music] [Mr. Shanahan] This is Jim Shanahan, publisher at McGraw Hill. Harrison's Podclass is brought to you by McGraw Hill's Access Medicine, the online medical resource that delivers the latest trusted content from the best minds in medicine.
DR. HANDY: Go to accessmedicine.com to learn more.
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