ArticleOrphanet journal of rare diseases2025
Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair.Clinical, cosmetic and investigational dermatology · 2026Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
backgroundDyskeratosis 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.
resultsIn 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.
conclusionsOur 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.
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