A middle-aged man complained of symptomatic oral lesions. Family history was positive for Fanconi anemia (FA). An intraoral examination revealed generalized erythroleukoplakia with focal ulcerations affecting the palate (Figure 1). Differential diagnosis included lichenoid lesions, dysplasia and squamous cell carcinoma (SCC). Previous biopsies demonstrated mild to moderate dysplasia. The patient underwent genetic testing and was diagnosed with FA.

Figure 1.

Generalized erythroleukoplakia with focal ulcerations affecting the hard and soft palate.

(0.22MB).

FA is an autosomal recessive disorder characterized by physical abnormalities, bone marrow failure and predisposition to hematologic and solid malignancies.1 Oral findings associated with FA include mucosal lesions, periodontal disease and dental anomalies.2 FA patients are considered high-risk for oral SCC.3