title: Dyskeratosis congenita associated with leukoplakia of the tongue.
abstract: Dyskeratosis congenita (DC) is an inherited disease characterized by the triad of skin pigmentation, nail dystrophy, and oral leukoplakia. Among other abnormalities, bone marrow failure and a predisposition to cancer are recognized as the major causes of premature mortality in patients with DC. This disease is associated with short telomeres and mutations in 10 genes associated with telomerase and telomere components. The case of a 35-year-old male patient diagnosed with DC, who presented with leukoplakia of the tongue and had a high degree of hypoplastic marrow, but no haematological abnormalities, is reported here. The diagnosis of DC was confirmed by detection of short telomeres in the blood cells and mutations in the DKC1 gene. This encounter with the case presented suggests that an awareness of the classical forms of DC is important for oral clinicians so that an early diagnosis can be made and the patient can be managed appropriately. Furthermore, genetic analysis is necessary to establish the diagnosis of DC.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Kurobe City Hospital, Kurobe, Toyama, Japan; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine and Pharmaceutical Sciences for Research, University of Toyama, Toyama, Japan. Electronic address: z.noto@med.kurobe.toyama.jp.
authors.forename: Z
authors.initials: Z
authors.lastname: Noto
authors.affiliation: Department of Oral and Maxillofacial Surgery, Graduate School of Medicine and Pharmaceutical Sciences for Research, University of Toyama, Toyama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Tomihara
authors.affiliation: Department of Oral and Maxillofacial Surgery, Graduate School of Medicine and Pharmaceutical Sciences for Research, University of Toyama, Toyama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Furukawa
authors.affiliation: Department of Oral and Maxillofacial Surgery, Graduate School of Medicine and Pharmaceutical Sciences for Research, University of Toyama, Toyama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Noguchi
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D006801:Humans; D007972:Leukoplakia, Oral / Q000150:complications*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D019098:Telomerase / Q000235:genetics; D016615:Telomere / Q000235:genetics; D014060:Tongue Diseases / Q000150:complications*
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D019098:Telomerase
keywords: DKC1; dyskeratosis congenita (DC); leukoplakia