A novel keratin 13 variant in a four-generation family with white sponge nevus

Stephanie B de Haseth; Egbert Bakker; Maarten H Vermeer; Hakima El Idrissi; Tjalling Bosse; Vincent T H B M Smit; Anna Terron-Kwiatkowski; W H Irwin McLean; Alexander A W Peters; Frederik J Hes

doi:10.1002/ccr3.1073

A novel keratin 13 variant in a four-generation family with white sponge nevus

Clin Case Rep. 2017 Jul 29;5(9):1503-1509. doi: 10.1002/ccr3.1073. eCollection 2017 Sep.

Affiliations

¹ Department of Gynaecology Leiden University Medical Center Leiden The Netherlands.
² Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands.
³ Department of Dermatology Leiden University Medical Center Leiden The Netherlands.
⁴ Department of Pathology Leiden University Medical Center Leiden The Netherlands.
⁵ East of Scotland Genetics Service Ninewells Hospital Dundee UK.
⁶ Centre for Dermatology and Genetic Medicine University of Dundee Dundee UK.

Abstract

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.

Keywords: De novo variant; KRT13; White sponge nevus; mucosal neoplasia.

Publication types

Case Reports