313 A case of familiar white sponge nevus with KRT4 gene variants

White sponge nevus (WSN) is a rare genetic disease with AD inheritance that mostly diagnosed in oral and dental medical departments as the most obvious clinical sign dyskeratotic hyperplasia form of white spongy plaques mucosa. According to published data from Hungary, 13 patients were at Departments Oral Medicine Conservative Dentistry Semmelweis University, histology detailed ultrastructural examination mucosal lesions. Searching literature, we have not found publications only Hungarian patients. Here present father his daughter our Department. The 42-year old already underwent several shave biopsies electro-cauterization diagnosis leukoplakia. His 17-year had diffuse oral, but also genital mucosa involvement. analysis showed known pathogenic variant KRT4 gene (KRT4 c.438-440delCAA; identified first two Scottish patients) both Currently, are investigating other variants gene, this carry more INDEL and/or SNP variations compared average for same chromosome. So far, an unknown novel (a 42-nucleotide long insertion) has been We studying potential involvement pathology modifier.