Signs and Symptoms of Connective Tissue Disease

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Amanda Mixon, PA-C, discusses how rheumatic diseases may first present in skin, ocular or gastric symptoms.

The interplay between dermatology and rheumatology is increasingly involved in modern medicine, as advances to inflammation-targeting pharmacotherapy and shifts in standard specialty care team makeup has warranted a greater collaboration between specialists in either field for their overlapping patients’ sakes.

What becomes more crucial because of this shift, though, is timely diagnostics—catching systemic presentations of connective tissue diseases, regardless of the symptom and the background of the specialist identifying it.

In the second segment of an interview with HCPLive during the Society for Dermatology Physician Assistants (SDPA) 2024 Summer Meeting, Amanda Mixon, PA-C, physician assistant at UCHealth Rheumatology Clinic, discussed how to first identify rheumatic conditions like rheumatoid arthritis (RA) and systemic lupus erythematosus in the skin—and vice versa. Interestingly, each of these connective tissue diseases present in the skin in multiple ways. In fact, lupus is associated with so many skin manifestations that it’s often going undiagnosed first in dermatology visits.

“With rheumatoid arthritis, patients from a skin perspective can have rheumatoid nodules that often will present to dermatology. You can have a cutaneous vasculitis that's associated with rheumatoid arthritis,” Mixon explained. “With systemic lupus, there are lots and lots of different skin manifestations. And most commonly, we talk about this thing called the butterfly rash; it's kind of this skin rash on the face.”

There’s other more apparent symptoms with these conditions, Mixon noted: ophthalmic presentation like uveitis, or gastric effects like inflammatory bowel disease. In fact, non-dermatologic symptoms are a clear indication that a specialist is not merely dealing with a case of psoriasis: joint pain or swelling, fatigue, fever, lymph node swelling or shortness of breath may be a clear sign that an undiagnosed connective tissue disease is occurring.

“As a dermatology clinician, if you're seeing something that doesn't just look like one of [the] most common skin diseases or disorders, asking those questions, 'How are you feeling otherwise? Are you feeling okay? Are you having any other symptoms? Are you feeling run down? Are you having joint pain?' It's asking some of those other constitutional symptoms, and from there, it can be a little bit more like your ‘spidey sense’ goes up a little bit when a patient says those things to you, because then you're kind of like, 'I think this might be something more systemic versus just cutaneous’,” Mixon said.

Beyond that, the risk of rare connective tissue disease cannot go overlooked. Autoimmune disorders like scleroderma could first present in significant Raynaud’s phenomenon, as well as any of the above symptoms.

“There's something more systemic happening in that patient that is causing that ulceration to happen, and I really need to start thinking about what that potentially could be,” Mixon said. “Is this scleroderma? Is it an underlying vasculitis? And so, seeing some of those things, I think can be a better indicator that, yeah, something else more systemic is happening here and I really need to get that patient to rheumatology.”

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