A novel keratin 13 variant in a four-generation family with white sponge nevus.
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ABSTRACT:
SUBMITTER: de Haseth SB
PROVIDER: S-EPMC5582238 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Publications
A novel keratin 13 variant in a four-generation family with white sponge nevus.
de Haseth Stephanie B SB Bakker Egbert E Vermeer Maarten H MH El Idrissi Hakima H Bosse Tjalling T Smit Vincent T H B M VTHBM Terron-Kwiatkowski Anna A McLean W H Irwin WHI Peters Alexander A W AAW Hes Frederik J FJ
Clinical case reports 20170729 9
We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma. ...[more]
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