Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report

Fanconi Anemia (FA) is a rare autosomal recessive syndrome (birth incidence of 1 per 350000), first described in 1927 as a progressive lethal anaemia associated with brown pigmentation of skin [1,2]. Subsequently, this term was extended to a syndrome that includes pancytopenia with hypoplastic bone marrow, skeletal, renal and ophtalmological malformations and chromosomal aberrations. The disease involves many organs including skin and genitourinary, musculoskeletal, cardiovascular and neurological systems. The clinical findings in FA patients are hyperpigmentation, small reproductive organs in males, kidney problems, thumbs and arm abnormalities, skeletal anomalies of hip, spine or ribs, low birth weight, short stature, growth retardation, defects of the tissue separating the heart chambers and mental retardation or learning disabilitym [3,4]. Most cases of FA manifest anaemia symptoms during childhood. However, the symptoms may not become apparent until adulthood [5,6]. FA patients are at risk for secondary malignancies, for example leukaemia, squamous cell carcinoma and hepatocellular carcinoma [7-9]. The risk of squamous cell carcinoma development is expecially high in the anogenital region as well as the head and neck region [10] Increased susceptibility of the oral cavity and anogenital region to local predisposing factors, including environmental toxins and viruses [5]. The authors report a new case of hard palate squamous cell carcinoma in a FA patient. The clinical history and localization of the tumour make this case unique.The patient, a 27-year-old white male, was referred by a private oral surgeon to our hospital for evaluation of a hard palate lesion that had appeared six months before (Figure 1). The lesion had been diagnosed initialing as gingivitis by the private oral surgeon and treated with local topical medicines without any remission.At the age of seven the patient was recovered for an orthopaedic trauma. He had been diagnosed with FA at the age