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X‐linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora
Author(s) -
Powell J. B.,
Dokal I.,
Carr R.,
Taibjee S.,
Cave B.,
Moss C.
Publication year - 2014
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12272
Subject(s) - dyskeratosis congenita , medicine , bone marrow failure , dermatology , dyskeratosis , genetic disorder , disease , pathology , telomere , hyperkeratosis , genetics , stem cell , biology , dna , haematopoiesis
Summary 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 ( SCC s) may also prove fatal. We report the case of a 28‐year‐old man with X‐linked DC and confirmed DKC 1 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.