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Background <p>Dyskeratosis congenita (DC) is a rare and fatal disease, presenting with a classic triad of skin pigmentation, nail dystrophy and oral leukoplakia. However, diagnosing DC is challenging based solely on the protean manifestations and multisystemic involvement. Therefore, it is urgent to identify an early feature facilitating initial suspicion of DC.</p> Results <p>In this study, we enrolled a cohort of six male children diagnosed with DC, all of whom exhibited erosions or ulcers on the tongue, while five of them did not display the complete classic triad. Strikingly, oral erosions or ulcers have never been included in any existing clinical diagnostic criteria for DC. Through a retrospective analysis, we further demonstrated that extensive and persistent tongue ulceration emerges as an early and practicable clinical marker, provoking suspicion of DC even in the absence of the classic triad.</p> Conclusions <p>Our findings challenge prevailing diagnostic criteria and advocates for an expanded consideration of tongue ulceration as a primary and indicative manifestation of DC, thereby affording a strategic advantage for early detection and intervention of this lethal disease.</p>

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Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月21日

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  • Xuefeng Zhang,
  • Hongxia Dan,
  • Yu Zhou,
  • Wanxin Sun,
  • Wanchun Yang,
  • Xin Zeng

摘要

Background

Dyskeratosis congenita (DC) is a rare and fatal disease, presenting with a classic triad of skin pigmentation, nail dystrophy and oral leukoplakia. However, diagnosing DC is challenging based solely on the protean manifestations and multisystemic involvement. Therefore, it is urgent to identify an early feature facilitating initial suspicion of DC.

Results

In this study, we enrolled a cohort of six male children diagnosed with DC, all of whom exhibited erosions or ulcers on the tongue, while five of them did not display the complete classic triad. Strikingly, oral erosions or ulcers have never been included in any existing clinical diagnostic criteria for DC. Through a retrospective analysis, we further demonstrated that extensive and persistent tongue ulceration emerges as an early and practicable clinical marker, provoking suspicion of DC even in the absence of the classic triad.

Conclusions

Our findings challenge prevailing diagnostic criteria and advocates for an expanded consideration of tongue ulceration as a primary and indicative manifestation of DC, thereby affording a strategic advantage for early detection and intervention of this lethal disease.