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

Abstract

Key Clinical MessageWe 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.

Oral White Lesions: An Updated Clinical Diagnostic Decision Tree

“…When the white plaque fades with stretching leukoedema should be suspected, especially in a smoker patient with the involvement of buccal mucosa [4,11]. On the other hand, diffuse white plaques in the oral cavity along with extraoral mucosal lesions are in accordance with white sponge nevus [8]. Oral white plaques accompanied by conjunctival plaques and eye lesions are usually seen in patients with hereditary benign intraepithelial dyskeratosis [13].…”

“…White sponge nevus (WSN), also called Cannon disease or familial white folded dysplasia, is an inherited autosomal dominant disorder that is defined as dyskeratotic hyperplasia of mucous membranes [2]. WSN is a rare condition with no sex predilection [8]. A prevalence of below one in 200,000 population has been reported [4].…”

“…Intraoral lesions are symmetrical, thickened, white, corrugated or velvety, diffuse, spongy plaques of variable sizes with an elevated, irregular, and fissural surface. Buccal mucosa is affected bilaterally in most patients [4,5,7,8]. Other areas of the oral cavity such as the ventral surface of the tongue, labial mucosa, soft palate, alveolar mucosa, and floor of the mouth can also be affected, but the amount of involvement might vary from patient to patient.…”

Lesões brancas benignas da mucosa oral: apresentação clínica, diagnóstico e tratamento

“…A mucosa jugal, bilateralmente, é a área mais acometida pela lesão, entretanto, áreas como ventre de língua, mucosa labial, palato mole, mucosa alveolar e assoalho de boca também podem estarem acometidos. Lesões extraorais, como mucosa genital, laríngea e esofágica são incomuns (de Haseth et al, 2017;Neville, 2009).…”

“…Por se tratar de uma lesão hereditária, o diagnóstico do NBE é realizado com base na história detalhada do paciente e da família, além de inspeção das lesões nas mucosas afetadas, analise histopatológica e análise genética molecular. Por se tratar de uma lesão benigna, nenhum tratamento é indicado para NBE (Ali et al, 2013;de Haseth et al, 2017;Neville, 2009) .…”