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

Key Clinical Message 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 devel...

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Veröffentlicht in:	Clinical case reports 2017-09, Vol.5 (9), p.1503-1509
Hauptverfasser:	Haseth, Stephanie B., Bakker, Egbert, Vermeer, Maarten H., Idrissi, Hakima, Bosse, Tjalling, Smit, Vincent T.H.B.M., Terron‐Kwiatkowski, Anna, McLean, W.H. Irwin, Peters, Alexander A.W., Hes, Frederik J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Case Reports Cervical cancer De novo variant KRT13 mucosal neoplasia Squamous cell carcinoma White sponge nevus
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Beschreibung
Zusammenfassung:	Key Clinical Message 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. 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.
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.1073