{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T18:54:55Z","timestamp":1773341695490,"version":"3.50.1"},"reference-count":12,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,28]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>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\u20132021) 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\u2009months 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.<\/jats:p>","DOI":"10.1136\/bcr-2021-242459","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T12:46:39Z","timestamp":1620737199000},"page":"e242459","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Dyskeratosis congenita and squamous cell carcinoma of the mandibular alveolar ridge"],"prefix":"10.1136","volume":"14","author":[{"given":"Alfonso","family":"Manfuso","sequence":"first","affiliation":[{"name":"Head and Neck Department, Operative Unit of Maxillo-Facial Surgery and Otolaryngology, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Puglia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio Maria","family":"Risitano","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery, University of Naples Federico II School of Medicine and Surgery, Naples, Campania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2992-893X","authenticated-orcid":false,"given":"Chiara","family":"Copelli","sequence":"additional","affiliation":[{"name":"Head and Neck Department, Operative Unit of Maxillo-Facial Surgery and Otolaryngology, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Puglia, Italy"},{"name":"Department of Surgical Sciences, Operative Unit of Maxillo-Facial Surgery, University of Turin, Torino, Piemonte, 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