Commentary

[摘要] In this case study, Guinan and Agarwal present an adult patient with progressive bone marrow failure (BMF) displaying many classic features of dyskeratosis congenita (DC), including dystrophic nails, reticular pigmentation, and leukoplakia. Despite the lack of a molecular diagnosis, the presence of classic clinical features, the family history, and the characteristic short telomeres in peripheral blood lymphocytes support the clinical diagnosis of DC and suggest that the patient's BMF is caused by the excessively short telomeres. This case also highlights that not all patients present with classic features at the time when BMF …

[学科分类] 过敏症与临床免疫学