A case of dyskeratosis congenita with squamous cell carcinoma of the maxilla: A case report and review of the literature

Academic Article


  • Dyskeratosis congenita (DC) is commonly diagnosed clinically with three classic findings of 1) oral leukoplakia, 2) nail dystrophy, and 3) abnormal skin pigmentation. It is commonly associated with bone marrow failure, increased predisposition for malignancies and a variety of additional somatic features. Nearly 70% of patients with DC present with oral leukoplakia, a lesion with up to a 34% chance of malignant transformation [5,13]. Although oral squamous cell carcinoma (OSCC) is the most common malignant transformation of long-standing leukoplakia, a limited number of cases have been reported in patients with DC. Most of which, involved the tongue and buccal mucosa. A retrospective chart review and literature review of DC and OSCC was completed for this article. We present a patient with DC who presented with OSCC involving the maxilla. The patient underwent a partial maxillectomy, skin grafting and obturator placement. There was no evidence of recurrence or new disease at the 15-month mark. OSCC in patients with DC is uncommon, but with close surveillance and thorough oral cavity examinations by a health professional, malignant transformations can be detected and treated at an early stage.
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    Author List

  • Le JM; Kase MT; Morlandt AB
  • Volume

  • 6
  • Issue

  • 1