2006
DOI: 10.1186/1746-160x-2-1
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Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report

Abstract: Fanconi Anemia is a rare autosomal recessive disorder characterized by various congenital malformations, progressive bone marrow failure at a very young age and of solid tumors development. The authors present a rare case of a squamous cell carcinoma of the hard palate in a Fanconi Anaemia patient. The atypical clinical manifestation rendered the diagnosis more difficult. This case, for age of appearance, sex and localization, is unique in international literature. We recommend a quarterly follow up of the ora… Show more

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Cited by 29 publications
(36 citation statements)
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“…Most cases of FA manifest anaemia symptoms during childhood. 3 It is associated with progressive bone marrow failure, congenital anomalies, growth retardation, hyperpigmentation of the skin, cafe au lait spots and a predisposition to malignancies, especially acute myelocytic leukemia and squamous cell carcinoma. 4 About 75% of patients with Fanconi anemia have birth defects, such as altered skin pigmentation and/or café au lait spots (>50%), short stature (50%), thumb or thumb and radial anomalies (40%), abnormal male gonads (30%), microcephaly (25%), eye anomalies (20%), structural renal defects (20%), low birth weight (10%), developmental delay (10%), abnormal ears or hearing (10%).…”
Section: Discussionmentioning
confidence: 99%
“…Most cases of FA manifest anaemia symptoms during childhood. 3 It is associated with progressive bone marrow failure, congenital anomalies, growth retardation, hyperpigmentation of the skin, cafe au lait spots and a predisposition to malignancies, especially acute myelocytic leukemia and squamous cell carcinoma. 4 About 75% of patients with Fanconi anemia have birth defects, such as altered skin pigmentation and/or café au lait spots (>50%), short stature (50%), thumb or thumb and radial anomalies (40%), abnormal male gonads (30%), microcephaly (25%), eye anomalies (20%), structural renal defects (20%), low birth weight (10%), developmental delay (10%), abnormal ears or hearing (10%).…”
Section: Discussionmentioning
confidence: 99%
“…In the present case, regular follow-up and early management allowed for rapid detection of local gingival SCC recurrence. In FA patients with a history of leukoplakia or recurrent oral lesions, head and neck examinations are recommended every 6-8 weeks [12]. …”
Section: Discussionmentioning
confidence: 99%
“…Some type of odontogenic cysts have characteristic epithelial linings and differ in their behavior. [3]…”
Section: Introductionmentioning
confidence: 99%
“…Secondly, they are known to occur in two fashions solitary (or sporadic) and as part of the BCNS. [3] The aggressive clinical behavior and frequent recurrence following curettage has been the focus of several studies, which indicated that the odontogenic keratocyst epithelial lining may have some intrinsic growth potential. [4] In light of the epithelial behavior here, we present a case of odontogenic keratocyst with metaplastic epithelium attributed to the presence of inflammation.…”
mentioning
confidence: 99%