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.
FA is an autosomal recessive disorder characterized by physical abnormalities, bone marrow failure and predisposition to hematologic and solid malignancies.11 Schifferli A, Kuhne T. Fanconi anemia overview of the disease and the role of hematopoietic transplantation. J Pediatr Hematol Oncol. 2015;37(5):335-43. Oral findings associated with FA include mucosal lesions, periodontal disease and dental anomalies.22 Goswami M, Bhushan U. Dental perspective of rare disease of Fanconi anemia: case report with review Clin Med Insights. Case Rep. 2016;17(9):25-30. FA patients are considered high-risk for oral SCC.33 Velleuer E, Dietrich R. Fanconi anemia young patients at high risk for squamous cell carcinoma. Mol Cell Pediatr. 2014;1(1):9.
References
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1Schifferli A, Kuhne T. Fanconi anemia overview of the disease and the role of hematopoietic transplantation. J Pediatr Hematol Oncol. 2015;37(5):335-43.
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2Goswami M, Bhushan U. Dental perspective of rare disease of Fanconi anemia: case report with review Clin Med Insights. Case Rep. 2016;17(9):25-30.
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3Velleuer E, Dietrich R. Fanconi anemia young patients at high risk for squamous cell carcinoma. Mol Cell Pediatr. 2014;1(1):9.
Publication Dates
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Publication in this collection
Apr-Jun 2017
History
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Received
3 Mar 2017 -
Accepted
24 Mar 2017