A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report
Dyskeratosis congenita can present with isolated cytopenia, risking misdiagnosis. Early genetic confirmation is vital for management and enables informed reproductive planning through prenatal diagnosis. Androgen therapy may be an effective supportive treatment.
Authors
- Jidong Tian
- Ruifan Wen
Institutions
- Central South University (CN)
- Hunan University of Traditional Chinese Medicine (CN)
- Second Xiangya Hospital of Central South University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2026-01-02
- DOI
- https://doi.org/10.1097/md.0000000000046956
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 0.00