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A case of Cockayne syndrome with unusually mild clinical manifestations

Tsujimoto, Mariko Nakano, Eiji Nakazawa, Yuka Kanda, Fumio Ueda, Takehiro Ogi, Tomoo Nishigori, Chikako 神戸大学

2023.04

概要

We present a mild case of Cockayne syndrome that was referred to us with an extreme sunburn at the age of 3. In early teens, although her cutaneous symptoms alleviated without any medications, she developed tremor and dysarthria. Neurological examination and brain imaging suggested demyelination disorders. The patient's cells indicated a reduced recovery of RNA synthesis, which was partially restored by the introduction of CSB (Cockayne Syndrome B)-cDNA. In addition, her cells indicated a substantially reduced level of CSB protein. Despite the insidious progression of neurological symptoms, she gave birth to a child. Such mild cases of Cockayne syndrome may be misdiagnosed.

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S U P P O R T I N G I N FO R M AT I O N

Additional supporting information can be found online in the

Supporting Information section at the end of this article.

How to cite this article: Tsujimoto M, Nakano E, Nakazawa Y,

Kanda F, Ueda T, Ogi T, et al. A case of Cockayne syndrome

with unusually mild clinical manifestations. J Dermatol.

2023;50:541–­545. https://doi.org/10.1111/1346-8138.16679

13468138, 2023, 4, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/1346-8138.16679 by Kobe University, Wiley Online Library on [03/04/2023]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License

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