The Role of Oral Exams in Diagnosing Autoimmune Disease

The Importance of the Dentist’s Role in Early Detection of Systemic Disorders 

In many instances, systemic diseases may affect the oral cavity first before appearing elsewhere in the body. This emphasizes the importance of dentists in detecting changes inside the mouth, which can lead to early diagnosis, improving the efficiency and effectiveness of treatment approaches. Here, we'll discuss the most common autoimmune and inflammatory diseases that may show their primary presentation in the oral cavity. 

Many autoimmune diseases have similar clinical appearances in the mouth and may resemble oral changes due to other causes, which can pose a challenge. However, an experienced dentist with a discerning eye can narrow the possibilities to a comprehensive list of differential diagnoses. Changes to the oral mucous membrane associated with autoimmune and inflammatory disorders manifest most commonly as blisters and ulcers. They can also appear as erosions, redness, and gum inflammation.

In this article, we will talk about the oral manifestations of several autoimmune conditions. 

Lupus Erythematosus

Lupus erythematosus is a chronic autoimmune inflammatory disease that affects women eight times more frequently than men. The most common manifestations of systemic lupus erythematosus (SLE) include fatigue, joint pain, skin rashes, sensitivity to sun, and kidney disease. Additionally, abnormalities in the oral cavity can be seen. In fact, oral ulcers can be an indicator of increased disease activity. The classic presentation is an oral discoid lesion, characterized by a well-demarcated area of erythema, atrophy, or ulceration surrounded by white, radiating lines known as striae, which greatly resembles the oral appearance of erosive lichen planus, which we'll further discuss later. Other clinical appearances include silvery-white plaques resembling scar tissue, irregularly shaped ulcers, and superficial, patchy reddening of the mucosa, also known as nonspecific erythema. Gingival bleeding and desquamative gingivitis have also been reported in lupus erythematosus.

Figure 1 presents two clinical appearances of lupus erythematosus in the mouth, a rough-surfaced plaque on the midline of the palate (blue arrow), and an adjacent nonspecific erythema to the left (yellow arrow).

Pemphigus Vulgaris

Pemphigus vulgaris is a rare autoimmune disorder characterized by painful blistering of the skin and mucous membranes, caused by the body attacking the proteins that hold skin cells together. The oral cavity is the first body area attacked in 60% of cases. Lesions are found mainly on the buccal, soft palatal, lingual, and labial mucosa. They start as thin-walled, fluid-filled blisters that easily rupture, leaving diffuse, painful erosions and ulcerations with a burning sensation. The gums are less frequently affected. Lesions on the skin may appear a few months after the appearance of the mouth lesions or may be delayed by a year or more in some cases.

Figure 2 presents diffuse ulceration of the buccal mucosa in a patient with pemphigus vulgaris.

Paraneoplastic pemphigus

Paraneoplastic pemphigus is a rare, severe autoimmune blistering disorder caused by an underlying cancer. It is characterized by painful mucosal erosions and widespread skin lesions. In most cases, the cancer is diagnosed before the development of paraneoplastic pemphigus. However, this condition can also be the first indication of underlying cancer so it is important to recognize. Changes in the oral mucosa are present in nearly all individuals affected, with the appearance of painful, hemorrhagic erosions in the oral cavity, typically on the lateral aspect of the tongue and lips. 

Mucous membrane pemphigoid

Mucous membrane pemphigoid is a chronic autoimmune disorder that primarily affects mucosal surfaces, leading to blistering, scarring, and inflammation, most commonly in the eyes, mouth, and throat. In almost 95% of cases, the gums are affected, leading to desquamative gingivitis. The lesions show erythema or true ulcerations, and very often, this is misdiagnosed as periodontal disease. Lesions may involve other locations in the oral cavity, including the palate, buccal mucosa, lips, tongue, and pharynx. Symptoms range from a burning sensation and bleeding to chewing impairment. Pemphigoid blisters are less fragile than pemphigus blisters and can remain intact inside the mouth for up to 48 hours.

Figure 3. Erosions on the palatal and the gingival mucosa in a patient with mucous membrane pemphigoid. 

Oral lichen planus

Lichen planus is a chronic inflammatory skin condition characterized by itchy, flat-topped, purple or reddish papules that commonly affect the skin, mucous membranes, nails, and hair. The sites in the oral cavity most often affected are the tongue, buccal area, labial mucosa, and gums. Oral manifestations can be divided into six subgroups: reticular, papular, plaque, atrophic, erosive, and bullous. The reticular is the most common, and its appearance consists of white striations (Wickham striae), creating a lace-like pattern. The atrophic, erosive, and bullous are usually symptomatic and cause discomfort, burning, and pain. Lesions in the oral cavity are most commonly multiple, affecting both sides of the mouth in a symmetrical distribution. Different subgroups can be simultaneously present in the same person. In addition, dry mouth, also known as xerostomia, is present in most oral lichen planus cases. It is important to be aware of the possible progression of mucous changes into squamous cell carcinoma, with the highest recorded frequency in atrophic, erosive, and bullous subgroups. For this reason, regular monitoring for oral cancer is indicated. 

Lichen planus usually arises without identifiable cause, although it may rarely be secondary to medications, for example, beta-blockers, hydroxychloroquine, and a spectrum of other agents, in which case the disease is termed lichenoid drug reaction.

Figure 4. Atrophic areas and white patches on the tongue in a patient with oral lichen planus.

Crohn’s disease

Crohn's disease is a chronic inflammatory bowel disease with a multifactorial etiology. It can manifest anywhere in the digestive tract, starting from the oral cavity to the anus. Oral changes can precede or coincide intestinal involvement but generally appear after intestinal involvement. Oral manifestations of Crohn's disease can be specific: painless swollen lips, fissuring of the tongue and lips, cobblestone appearance of mucosa, deep linear ulcers, and the appearance of nodules / polyps on the mucosa.

Treating the underlying intestinal disease can resolve painful recurrent ulcerations in patients diagnosed with Crohn's disease. A dentist's knowledge of oral manifestations of systemic ailments can save time and energy for both patients and dentists.

Figure 5 & Figure 6. Linear ulcers [blue arrow) in the depth of the buccal vestibule in patients with Crohn’s disease.

Figure 7. Mucosal nodule (blue arrow) on the buccal mucosa in a patient with Crohn’s disease. 

Sjögren’s syndrome

Sjögren’s syndrome is a chronic autoimmune disease affecting the salivary glands and tear-producing lacrimal glands. Decreased saliva production in this disorder causes dryness in the mouth, known as xerostomia.

Some patients show clinical signs confined to the mouth and eyes without evidence of other autoimmune issues, defined as primary Sjögren’s syndrome. 50% of cases also have a different autoimmune condition besides the mouth and eye signs, such as rheumatoid arthritis or systemic lupus erythematosus; in those cases, the disorder is called secondary Sjögren’s syndrome. Complications of a dry mouth are numerous, and the lack of saliva predisposes patients to developing tooth decay and development of caries (commonly known as cavities). The lack of saliva also facilitates plaque accumulation and hinders its clearance. Swelling and inflammation of the gums can also occur. Moreover, decreased salivary flow can lead to fungal infections. In addition to oral symptoms, patients also present irritation and dryness of the eyes.

Figure 8. Fissured tongue due to oral dryness secondary to Sjögren’s syndrome.

Scleroderma

Scleroderma is an autoimmune disease with hardening and tightening of the skin and connective tissues that can either be localized to a particular area or can be systemic (present throughout multiple organs in the body). 

Oral manifestations are often among the first clinical signs of the disease. After fibrosis of the facial tissue, microstomia can occur, which is a decrease in the size of the mouth opening leading to speech and swallowing difficulties. Moreover, the tongue may become rigid and the gingiva firm in addition to turning pale. Many patients are also reported to have xerostomia and secondary Sjögren’s syndrome. As a result, more pronounced dental caries and periodontal disease can occur. 

Behcet Disease

Behcet syndrome is an autoimmune, multisystemic disease. It is typically characterized by at least two out of the three key typical factors: oral ulcers, genital ulcers, and eye inflammation. The greatest incidence of the disease is observed in Mediterranean and Asian populations.

Oral lesions are often the first sign of Behcet syndrome and appear as ulcers of the oral mucosae, indistinguishable in appearance from the conventional aphthae of the oral mucosa. They are painful and characterized by recurring presentations. They are localized at the lips, buccal mucosa, soft palate, and tongue.

Figure 9. Aphthous ulceration covering the soft palate in a patient with Behcet disease.

Summary

Oral signs and symptoms accompany many autoimmune diseases and thus, oral healthcare providers have an essential role in managing this patient population. Recognizing changes in the oral cavity is essential in developing diagnoses of many autoimmune disorders. Further, treating often painful oral symptoms is key in preserving quality of life in these patient populations.  

Written by Dima Bader

Edited by Michael Stein & Mallory Kane 

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