Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia (SIOD).

Mary-Katharine Collins,Kaitlin Peters,Joseph C English,Peter Rady,Stephen Tyring,Jaroslaw Jedrych

JOURNAL OF CUTANEOUS PATHOLOGY（2018）

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摘要

Schimke immune-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by mutations in the SMARCAL1 gene encoding an ATP-driven annealing helicase that stabilizes stalled replication forks and facilitates DNA repair during replication . The syndrome is characterized by spondyloepiphyseal dysplasia, steroid-resistant nephropathy and cellular immune deficiency.

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关键词

acquired epidermodysplasia verruciformis,Schimke immune-osseous dysplasia,squamous cell carcinoma

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