Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita

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Dyskeratosis congenita (DC) is a rare, inherited, bone marrow failure syndrome caused by premature telomere shortening. The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia. Multiple somatic features, including bone marrow failure, pulmonary fibrosis, and liver disease, are also common. DC significantly increases the risk for malignant transformation, including myelodysplastic syndrome, acute myeloid leukemia, head and neck squamous cell carcinoma, and anogenital cancer. This case report describes a 23-year-old female with malignant transformation of oral leukoplakia to squamous cell carcinoma, demonstrated in a series of biopsies of the same site. Increased surveillance, proper biopsy technique, and a multidisciplinary approach are critical for patients with DC to ensure rapid diagnosis and treatment.

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