Zhang Xuefeng, Dan Hongxia, Zhou Yu, Sun Wanxin, Yang Wanchun, Zeng Xin
State Key Laboratory of Oral Diseases, National Center of Stomatology, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, Sichuan, China.
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Orphanet J Rare Dis. 2025 Apr 21;20(1):192. doi: 10.1186/s13023-025-03721-4.
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.
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.
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.
先天性角化不良（DC）是一种罕见的致命疾病，表现为皮肤色素沉着、指甲营养不良和口腔白斑这一经典三联征。然而，仅基于其多变的表现和多系统受累来诊断DC具有挑战性。因此，迫切需要确定一个有助于早期怀疑DC的特征。
在本研究中，我们纳入了一组6名被诊断为DC的男童，他们均表现出舌部糜烂或溃疡，其中5名未表现出完整的经典三联征。令人惊讶的是，口腔糜烂或溃疡从未被纳入DC现有的任何临床诊断标准中。通过回顾性分析，我们进一步证明广泛且持续的舌部溃疡是一个早期且可行的临床标志物，即使在没有经典三联征的情况下也能引发对DC的怀疑。
我们的研究结果对现行诊断标准提出了挑战，并主张将舌部溃疡作为DC的主要和指示性表现进行更广泛的考虑，从而为这种致命疾病的早期检测和干预提供战略优势。
