ArticleFrontiers in medicine2026
Case Report: A case of Rothmund-Thomson syndrome-like phenotype with an
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis typically associated with mutations in the Case presentation: We report the case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). Routine laboratory tests were unremarkable except for reduced vitamins B1, B2, B6, and B9 (November 2024). Whole-exome sequencing (approximately 20,000 genes) identified a variant of uncertain significance in Conclusion: We describe a patient with a Rothmund-Thomson syndrome-like phenotype who carried a heterozygous
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