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Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita

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Publication date: Available online 12 August 2017
Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Author(s): Michelle Bongiorno, Shayna Rivard, Daniel Hammer, Joshua Kentosh
Dyskeratosis congenita (DC) is a rare, inherited, bone marrow failure syndrome caused by premature telomere shortening. The classic mucocutaneous triad of clinical features is reticulated skin pigmentation, nail dysplasia, and oral leukoplakia. Multiple somatic features are also common including bone marrow failure, pulmonary fibrosis, and liver disease. DC significantly increases the risk for malignant transformation, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), head and neck squamous cell carcinoma (HNSCC), and anogenital cancer. This case describes a 23 year old female with malignant transformation of oral leukoplakia to squamous cell carcinoma (SCC) demonstrated in a series of biopsies of the same site. Increased surveillance, proper biopsy technique, and a multi-disciplinary approach are critical in DC patients to ensure rapid diagnosis and treatment.



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