Dyskeratosis congenita and squamous cell carcinoma of the mandibular alveolar ridge. Issue 5 (11th May 2021)

• Record Type: Journal Article
• Authors: Manfuso, Alfonso; Risitano, Antonio Maria; Copelli, Chiara
• Is Part Of: BMJ case reports. Volume 14:Issue 5(2021)
• Publication Date: 2021-05-11
• Subjects: cancer intervention -- ear -- nose and throat/otolaryngology -- head and neck cancer; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2021-242459
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Dyskeratosis congenita is a rare disease caused by telomerase dysfunction classically characterised by the triad: skin pigmentation, nail dystrophy and mucosal leukoplakia. Few cases are described in literature regarding patients with head and neck squamous cell carcinoma affected by dyskeratosis congenita, and the therapeutic decisions are not yet well defined. A review of the literature of the last 20 years (2001–2021) was performed, and it was analysed the case of a 38-year-old male patient affected by dyskeratosis congenita diagnosed with a squamous cell carcinoma of the inferior alveolar ridge, treated with surgery. The absence of complications and the good postoperative recovery of the patient comfort in saying that resection and reconstructive surgery can be safely performed. The occurrence of disseminated disease 6 months after the treatment warns about the extreme aggressiveness of the pathology, its often systemic nature and the necessity of a multidisciplinary approach as well as further studies.