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Dyskeratosis congenita and squamous cell carcinoma of the mandibular alveolar ridge
  1. Alfonso Manfuso1,
  2. Antonio Maria Risitano2 and
  3. Chiara Copelli1,3
  1. 1Head and Neck Department, Operative Unit of Maxillo-Facial Surgery and Otolaryngology, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Puglia, Italy
  2. 2Department of Clinical Medicine and Surgery, University of Naples Federico II School of Medicine and Surgery, Naples, Campania, Italy
  3. 3Department of Surgical Sciences, Operative Unit of Maxillo-Facial Surgery, University of Turin, Torino, Piemonte, Italy
  1. Correspondence to Professor Chiara Copelli; copkids{at}


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.

  • cancer intervention
  • ear
  • nose and throat/otolaryngology
  • head and neck cancer

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  • Contributors All the authors contributed to the planning, conduct, and reporting of the work. In particular: AM: planning and reporting. AMR: planning. CC: conduction, reporting and review.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Disclaimer Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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