"Dyskeratosis Congenita (DC) also known as Zinsser-Engman-Cole syndrome is a rare multi-system bone marrow failure syndrome characterised by mucocutaneous abnormalities and an increased predisposition to cancer". This is a common definition of DC but how did this definition arise? The aim of this review is to follow the development of DC and associated diseases from its first reported description in the early 20th century to the current understanding of the genes involved and its pathophysiology in 2007 in a chronological order. Although this review is not intended to be an exhaustive citation of the literature available it does provide a summary of the key developments, citing particularly the earlier reports of each development.

中文翻译：

---

先天性角化不良：历史视角。

“先天性角化不良 (DC) 也称为 Zinsser-Engman-Cole 综合征，是一种罕见的多系统骨髓衰竭综合征，其特征是皮肤黏膜异常和癌症易感性增加”。这是 DC 的常见定义，但这个定义是如何产生的？本综述的目的是按照时间顺序跟踪 DC 和相关疾病的发展，从 20 世纪初首次报道到 2007 年对相关基因及其病理生理学的当前理解。尽管本综述无意详尽引用现有文献，但它确实提供了关键发展的摘要，特别是引用了每个发展的早期报告。