title: A case of laryngeal carcinoma in a young adult with dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is an inherited disorder that is characterized by the triad of skin pigmentation, nail dystrophy, and mucosal leukoplakia. Individuals with DC suffer from premature mortality because of bone marrow failure, pulmonary disease, or malignant transformation within the areas of mucosal leukoplakia, caused by telomerase dysfunction. We present a case of a 31-year-old Japanese man with DC who developed laryngeal cancer (supraglottic T4aN0M0). To avoid the serious risks of accelerating the DC-associated complications by DNA-damaging therapies, he was treated with a total laryngectomy plus right modified neck dissection (levels IB, IIA, III, and IV). A contralateral nodal metastasis appeared 4 months after initial surgery and was salvaged by a left radical neck dissection. Our strategy to spare DNA-damaging therapies has proven effective so far. This is the first reported case of laryngeal cancer in a patient with DC in the English-language medical literature.
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, Kyushu Koseinenkin Hospital, 2-1-1, Kishinoura, Nishiku, Kitakyushu 806-8501, Japan.
authors.forename: Noritaka
authors.initials: N
authors.lastname: Komune
authors.forename: Takashi
authors.initials: T
authors.lastname: Hara
authors.forename: Akihiro
authors.initials: A
authors.lastname: Tamae
authors.forename: Kunio
authors.initials: K
authors.lastname: Izu
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Tokura
authors.forename: Andrew K
authors.initials: AK
authors.lastname: Joe
authors.forename: Muneyuki
authors.initials: M
authors.lastname: Masuda
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000209:etiology* / Q000556:secondary / Q000601:surgery; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D004724:Endoscopy; D006801:Humans; D007822:Laryngeal Neoplasms / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D007825:Laryngectomy; D008207:Lymphatic Metastasis; D008297:Male; D037981:Neck Dissection; D009367:Neoplasm Staging; D049268:Positron-Emission Tomography; D012086:Reoperation; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome