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At a glance

  • Diagnosis of Gardner syndrome early in life is imperative so the patient can have a prophylactic colectomy and ­siblings can be evaluated for the disease.

  • The prognosis of amyloidosis depends on which organs are involved and the extent of the deposition.

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  • Although there is no permanent cure for pernicious anemia, repletion of vitamin B12 should be followed by
    cessation of anemia-related symptoms.
  • Progression of oral lesions in Kaposi sarcoma requires management because they may result in a mass or swelling that can be extremely painful and can interfere with oral function.

Many systemic diseases have unique oral manifestations that can aid a primary-care clinician in making a diagnosis. Careful oral examination may reveal findings suggestive of a systemic disorder. Specifically, many granulomatous, immunologic, hematologic and microbial diseases can have manifestations in the oral mucosa. In addition, multiple digestive, endocrine, metabolic, genetic and nutritional diseases present with unique signs and symptoms in the oral environment, and looking for those characteristics can aid in early diagnosis. 

Digestive disorders

Gastroesophageal reflux disease. One GI disorder with oral manifestations is gastroesophageal disease (GERD), which affects 15%-40% of the population. A chronic disorder, GERD results from continual passage of acid from the stomach up into the esophagus, which damages the mucosal lining. Common symptoms include heartburn, dysphagia, and regurgitation, especially while the patient is lying flat. Reflux esophagitis, esophageal hemorrhage, stricture, Barrett esophagus, and adenocarcinoma have all been linked to untreated GERD.1

Potential oral manifestations of GERD include a burning or itching sensation affecting the oral mucosa, mouth ulcers, erosion of tooth structure, halitosis, altered salivary flow and a bad taste in the mouth. Additionally, the teeth may be affected, becoming sensitive to thermal insult and prone to fracture as the underlying dentin becomes exposed. Eventually, the acid erosion can lead to exposure of the tooth pulp and impaired chewing. Erosion is most often observed on the palatal surfaces of the maxillary dentition and the occlusal surfaces of the mandibular posterior teeth.

Regular dental care and medical control of acid production help decrease the prevalence of erosion. However, once the erosion occurs, it is irreversible and can be treated only with dental restorative procedures. Therefore, early recognition and patient education are the most effective treatment approach.

Sarcoidosis. This multisystem granulomatous disorder of unknown cause affects young adults and is more common in women and blacks. Some of the systemic manifestations most often seen include bilateral hilar lymphadenopathy, pulmonary fibrosis, erythema nodosum on the skin, ocular inflammation, hepatic involvement, parotid gland swelling and fever.

Acute sarcoidosis manifests with abrupt onset of erythema nodosum, which is characterized by nontender, elevated purple areas on the skin, whereas chronic sarcoidosis demonstrates a slow onset with progressive pulmonary fibrosis and multisystem involvement. Acute sarcoidosis often undergoes spontaneous resolution.

In addition to the skin lesions, sarcoidosis patients may demonstrate oral manifestations as well. The clinician may notice painless, nonulcerating, maculopapular, dark-red to brown lesions, occurring most often on the buccal mucosa and hard palate. One-fourth of all intraoral sarcoidosis cases are located in bone and identified on x-ray by an ill-defined radiolucency with no expansion.

In the majority of reported cases of sarcoidosis with intraoral involvement, the oral lesion was the first sign of the disease. Recognizing the oral manifestations of sarcoidosis is important because they may lead to a definitive diagnosis of systemic disease.

Crohn disease and ulcerative colitis. Two other systemic diseases that can present with distinct oral manifestations are Crohn disease and ulcerative colitis (UC). A chronic granulomatous inflammatory disease of the intestines, Crohn disease is characterized by frequent exacerbations. Although Crohn disease primarily affects the distal portion of the small intestine, manifestations can be seen at any point along the GI tract from the mouth to the anus.

Crohn disease is frequently seen in patients aged 10 to 30 years and has a high incidence in patients of Jewish ancestry. Patients often present with abdominal pain, nonbloody diarrhea, low-grade fever and malabsorption. Oral manifestations can be found in 6% to 20% of patients. The clinician conducting an examination of the patient’s mouth can see aphthous ulcers that exacerbate prior to the intestinal attack. The lips and cheeks will demonstrate inflammatory hyperplasia with surface fissuring. Polypoid, taglike lesions in the vestibular and retromolar mucosa and linear ulcers with hyperplastic margins can also be observed in some patients. When intestinal symptoms are under control, oral ulcerations resolve. 

UC is an inflammatory disease of the colon. Patients present with abdominal pain, bloody diarrhea, fever and weight loss. Unlike Crohn disease, which can demonstrate lesion-free areas of the small intestine, lesions of UC extend in a continuous fashion proximally from the rectum with no skip lesions. UC has a bimodal age distribution, with the first peak occurring at ages 15-20 years and the second occurring at ages 55-60 years.

Oral manifestations can include aphthous ulcers whose recurrence correlates with the appearance of diarrhea and other intestinal symptoms. The clinician may see pyostomatitis vegetans, which is characterized by purulent but sterile pustules of the lips, buccal mucosa and gingiva. Submandibular lymphadenopathy and edematous and inflamed lips with deep fissures and ulceration may be noted as well.

Gardner syndrome. An autosomal dominant disorder, Gardner syndrome (GS) is a well-recognized variant of familial adenomatous polyposis. GS is characterized by the presence of colonic polyposis; osteomas; and numerous soft-tissue tumors, such as epidermal cysts, desmoid tumors and lipomas.2 In addition to the polyposis, patients with GS may have various extraintestinal manifestations, including multiple jaw osteomas, odontomas, impacted teeth and supernumerary teeth.3 Unless the osteomas interfere with normal function or are deemed cosmetically unacceptable, they typically require no treatment. Development of the osteomas precedes that of the premalignant polyps, which usually start to appear during puberty.

Patients become symptomatic in their early 20s. If not treated, intestinal polyps will become malignant. Therefore, diagnosis of GS early in life is imperative so the patient can have a prophylactic colectomy and siblings can be evaluated for the disease.

Peutz-Jeghers syndrome. Another autosomal dominant disorder, Peutz-Jeghers syndrome (PJS) is characterized by oral and perioral ephelides, oral melanotic macules and intestinal polyposis. The polyps are typically found in the small intestine and are thought to be hamartomas, benign polyps with an extraordinarily low potential for malignancy. The pigmentations present as dark blue to brown macules, ranging in size from 1 to 5 mm, predominately found on the vermilion border of the lip, buccal mucosa and hands.

The oral pigmentations appear first and thus play an important part in early diagnosis. Ideally, early recognition of the characteristic mucocutaneous melanosis would lead to a thorough medical workup and the diagnosis of PJS. In reality, most cases of PJS are diagnosed subsequent to the onset of GI complaints, such as abdominal pain, obstruction and bloody stools, typically between the ages of 10 and 30 years.

Amyloidosis. Deposition of an extracellular proteinaceous material called amyloid is the underlying cause of a heterogenous group of conditions referred to as amyloidosis. Amyloid deposited in organs and tissues can cause significant harm, including tissue damage. The prognosis of amyloidosis depends on which organs are involved and the extent of the deposition. For example, protein accumulation in the heart and kidney can result in organ failure. When the GI tract is affected, the patient may experience vomiting, hemorrhaging and diarrhea.