title: X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora.
abstract: Dyskeratosis congenita (DC) is a clinically and genetically heterogeneous multisystem bone marrow failure disorder of telomere maintenance, which may present with dermatological features. The main cause of mortality is bone marrow failure, often developing in the second decade of life, although pulmonary disease and malignancies such as squamous cell carcinomas (SCCs) may also prove fatal. We report the case of a 28-year-old man with X-linked DC and confirmed DKC1 gene mutation. In addition to the classic triad of nail dystrophy, hyperpigmentation and oral leucoplakia, the patient had actinic keratosis (AK) and photodamaged skin, hitherto under-recognized features of this condition. Awareness of the clinical presentation of DC is important, as accurate clinical and molecular diagnosis affords patients and their families genetic counselling, cancer prevention and screening measures, and planning for complications such as bone marrow failure.
authors.affiliation: Department of Dermatology, Worcestershire Royal Hospital, Worcester, UK.
authors.forename: J B
authors.initials: JB
authors.lastname: Powell
authors.forename: I
authors.initials: I
authors.lastname: Dokal
authors.forename: R
authors.initials: R
authors.lastname: Carr
authors.forename: S
authors.initials: S
authors.lastname: Taibjee
authors.forename: B
authors.initials: B
authors.lastname: Cave
authors.forename: C
authors.initials: C
authors.lastname: Moss
mesh_terms: D000328:Adult; D019871:Dyskeratosis Congenita / Q000473:pathology*; D006801:Humans; D055623:Keratosis, Actinic / Q000473:pathology*; D007766:Lacrimal Apparatus Diseases / Q000473:pathology*; D008297:Male; D015595:Skin Aging / Q000473:pathology*; D013472:Sunlight / Q000009:adverse effects