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

Schimke immune‐osseous dysplasia1 (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 replication2. The syndrome is characterized by spondyloepiphyseal dysplasia, steroid‐resistant nephropathy and cellular immune deficiency.

Source: Journal of Cutaneous Pathology - March 2, 2018 Category: Pathology Authors: Mary ‐Katharine Collins, Kaitlin Peters, Joseph C. English, Peter Rady, Stephen Tyring, Jaroslaw Jedrych Tags: BRIEF COMMUNICATION Source Type: research