Rheuma Case: 37-year-old Woman with Reflux and Facial Rash

by Stephen Holt, MD, MS

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    00:01 Next stop, we're gonna talk about systemic sclerosis.

    00:04 And here's the case; a 37-year-old paramedic with a past medical history of Raynaud's phenomenon diagnosed six months prior, now presents with complaints of reflux and a facial rash.

    00:16 Now, she takes only diltiazem for her Raynaud's, and has learned to dress warmly throughout the year, to limit her flares.

    00:22 She has been having increasingly frequent symptoms of reflux, that no longer respond to over-the-counter ranitidine.

    00:29 Two weeks ago, she noticed some red patches on her face, wonder if any of her symptoms are related.

    00:35 She denies weight loss, no fevers, no hematochezia. Non-smoker, no alcohol, no illicit drugs.

    00:41 And family history is not too helpful.

    00:43 On review of systems she denies any dyspnea, no eye symptoms, and no joint pain.

    00:48 So let's highlight a few key features of this case.

    00:52 First off she reported Raynaud's phenomenon and that's very well-illustrated in the image to my right.

    00:57 You can see different color changes happening to different fingers often times precipitated by the cold.

    01:03 Sometimes even drinking coffee can cause flares.

    01:05 She also talked about a facial rash and red patches.

    01:09 Well, let's move on to the physical exam to see exactly what she means.

    01:12 There it is. Well first let's go to the initial vitals. Not much to show there.

    01:18 Normal sclera, no lymphadenopathy, benign cardio-pulmonary exam, and benign abdominal exam except for some mild tenderness to palpation over the epigastrium.

    01:27 Muscular skeletal exam was non-focal.

    01:30 And here we are with these numerous matted telangiectasias over the bilateral cheeks and nasolabial folds.

    01:38 The skin also you find at the tips of her multiple fingers bilaterally is firm, coarse, and thickened.

    01:45 Now, this is starting to sound like something called sclerodactyly.

    01:48 Another supporting finding would be the loss of the wrinkles; the transverse wrinkles on the fingers indicative of edema in the skin and stretching.

    01:57 Alright, so with the information we have thus far, which of the following is the most likely diagnosis? Well, we have a patient who has seemingly multiple systems involved; some GI stuff going on, skin, etc.

    02:09 So we have to wonder about something like sarcoidosis and multi-system inflammatory disease.

    02:15 Now, sarcoidosis has some classic skin lesions that don't really fit with what she's got.

    02:21 The most notable one on the face would be something called lupus pernio.

    02:25 Which is characterized by tender erythematous plaques on the cheeks, the nose, and around the lips.

    02:30 We're not told the lesions that our patients has are tender.

    02:34 Moreover, sarcoidosis doesn't typically cause GERD symptoms and it's also not at all associated with Raynaud's disease.

    02:41 So I think we can safely take sarcoid at least off the list.

    02:45 Next stop, speaking of systemic inflammatory diseases, lupus.

    02:50 Now, lupus is associated with Raynaud's.

    02:53 It's one of that classic group of conditions that fall under the mixed connective tissues disease grouping including inflammatory myositidis for example.

    03:02 It's definitely associated with Raynaud's.

    03:04 It can be associated with the facial rash that we typically think about the malar rash of lupus.

    03:09 At this point, we would also need some evidence of some other organ involvement to really go down the lupus pathway.

    03:16 For example something going on with your kidneys.

    03:19 Either way, we need to get some more information and certainly some serologic testing, we'll keep that one in our list.

    03:25 Next stop, is drug-induced scleroderma. Now she does have some suspicion for scleroderma.

    03:32 She has at least some evidence of symmetric skin thickening on her fingers so-called sclerodactyly.

    03:37 Of note, scleroderma can be drug-induced, though the most common agents are things like chemotherapy medications like bleomycin.

    03:45 All we're told that she is taking is diltiazem and we have to presume they would've told us if she was taking one of the culprit drugs.

    03:51 So knowing that diltiazem is not a cause of drug-induced scleroderma, I think we can safely take that one off of our list.

    03:59 Next stop, limited cutaneous systemic sclerosis of which the most common presentation for that is called the CREST syndrome.

    04:06 This is a sub type of systemic sclerosis, often described by this acronym, CREST which is associated with Calcinosis cutis; these ulcerations of the tips of the fingers, Raynaud's phenomenon which of course she has, esophageal dysmotility which we are concerned about with her complaints of GERD, sclerodactyly which it looks she has, and matted telangiectasias on her face. Well, she's got at least four of those things right now.

    04:35 So that one is definitely staying on our list.

    04:36 And looks like our most likely diagnosis. Next up, diffuse cutaneous systemic sclerosis.

    04:42 Now, this is by its nature going to be more associated with some visceral involvement.

    04:47 And we're gonna need more testing in order to establish that.

    04:50 Our patient at the moment at least is not presenting with any overt signs of lung or kidney involvement but we're gonna need to get some more data.

    04:57 Alright, so here's some laboratory data; we got CBC, basic metabolic panel with a normal creatinine, normal LFTs, normal urinalysis, got an ANA that's a bit elevated, a double-stranded DNA that's negative, and then we've got these two other tests; the anti-centromere and the anti-Scl-70 test.

    05:16 Let's look at the creatinine first. Well, that's reassuring.

    05:20 The fact that our creatinine is normal and our urinalysis is normal, stirs us away from certainly something like lupus but also stirs us away a little bit from systemic sclerosis which often times has renal involvement with the diffused cutaneous systemic sclerosis type.

    05:36 Next stop, looking at her ANA.

    05:39 Well, that fact that it's mildly elevated is very characteristic of systemic sclerosis of any type.

    05:44 So it doesn't really help to point us one way or the other.

    05:47 The fact that our double-stranded DNA incidentally is negative, pushes us further away from lupus.

    05:53 Now, the anti-centromere antibody test is very specific for limited cutaneous systemic sclerosis, which again is most typically characterized by the CREST syndrome.

    06:05 In contrast, the anti-Scl-70 antibody test also known as the anti-topoisomerase 1 antibody, is more associated with diffused cutaneous systemic sclerosis.

    06:16 So it looks like we're leaning towards limited cutaneous systemic sclerosis.

    06:21 With all that data in mind, I think we can confidently make our diagnosis of limited cutaneous systemic sclerosis or the CREST syndrome.

    About the Lecture

    The lecture Rheuma Case: 37-year-old Woman with Reflux and Facial Rash by Stephen Holt, MD, MS is from the course Connective Tissue Diseases.

    Included Quiz Questions

    1. ...hematuria.
    2. ...thickening of the skin over the fingers.
    3. ...whitish discoloration of the fingers in response to cold.
    4. ...heartburn and dysphagia.
    5. ...dilated blood vessels.
    1. Anti-centromere antibody
    2. Rheumatoid factor
    3. Antinuclear antibody
    4. Anti-topoisomerase I antibody
    5. Anti-neutrophil cytoplasmic antibody
    1. Bleomycin
    2. Diltiazem
    3. Vancomycin
    4. Aspirin
    5. Sublingual nitroglycerin

    Author of lecture Rheuma Case: 37-year-old Woman with Reflux and Facial Rash

     Stephen Holt, MD, MS

    Stephen Holt, MD, MS

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