European Journal of Dermatology
MENULate presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein Volume 25, numéro 1, January-February 2015
Illustrations
1 Department of Dermatology,
2 Department of Pediatrics,
4 Department of Internal Medicine,
Graduate School of Medicine and Pharmaceutical Sciences,
University of Toyama,
2630 Sugitani,
Toyama 930-0194,
Japan
Graduate School of Medicine and Pharmaceutical Sciences,
University of Toyama,
2630 Sugitani,
Toyama 930-0194,
Japan
3 Department of Hematology and Oncology,
Children's Medical Center,
Japanese Red Cross Nagoya First Hospital
Children's Medical Center,
Japanese Red Cross Nagoya First Hospital
5 Department of Pediatrics,
Nagoya University Graduate School of Medicine
Nagoya University Graduate School of Medicine
- DOI : 10.1684/ejd.2014.2454
- Page(s) : 75-6
- Année de parution : 2015
X-linked dyskeratosis congenita (DC) is an inherited disease caused by mutations in the DKC1 gene[1]. In typical cases, abnormal skin pigmentation and nail changes usually appear first, often by 10 years of age, with bone marrow failure and death developing before 20 and 40 years of age, respectively [2]. We report a patient with X-linked DC with a late presentation, where a substitution of methionine to threonine at position 350 in the dyskerin protein was found.A 35-year-old Japanese male presented [...]