Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology
Oral medicineWhite sponge nevus: report of a three-generation family
Section snippets
Genetic analysis
The pedigree of kindred could be reliably constructed for the 3 most recent generations (Fig. 1). This family was identified after the proband initial consultation. The other members of this family were invited to receive clinical support. The clinical examination of the family members revealed that of 23 descendants, 8 (34.78%) had WSN. Among the affected members, 5 were females and 3 were males. In the second generation, there were 2 unaffected members with direct descendants who had typical
Discussion
White sponge nevus is a genetic disease caused by CK4 or CK13 point mutations. In the present study, we report on 1 family with individuals manifesting WSN features in which the transmission occurred through an autosomal dominant trait with incomplete penetrance. Because unaffected parents with affected descendents were present, autosomal recessiveness combined with high disease allele frequency was deemed to be a possibility. However, the presence of affected members in all generations, in
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Cited by (31)
Lesions of the Oral Cavity
2020, Gnepp's Diagnostic Surgical Pathology of the Head and Neck, Third EditionDiagnostic Pathology: Head & Neck
2017, Diagnostic Pathology: Head and NeckMutation of keratin 4 gene causing white sponge nevus in a Japanese family
2013, International Journal of Oral and Maxillofacial SurgeryCitation Excerpt :WSN may mimic dyskeartosis congenita as both conditions present as childhood disorders, but the latter could transform to malignancy. One study reported individuals with WSN in unaffected parents due to incomplete gene penetrance, which may contribute to some inconsistency in the family history.7 Although WSN patients do not generally suffer from oral symptoms, they often complain of an altered mucosal texture and of the aesthetic appearance of the lesion.
White lesions
2011, Otolaryngologic Clinics of North AmericaCitation Excerpt :White sponge nevus typically presents early in life and there is no gender predilection.9 White sponge nevus presents as asymptomatic, white, soft and spongy bilateral plaques or macules, typically on the buccal mucosa, but other sites such as the lip, ventral surface of the tongue, and floor of the mouth may also be involved.11,12 Rare cases of mild discomfort due to secondary infections have been reported.12
White oral lesions, actinic cheilitis, and leukoplakia: confusions in terminology and definition: Facts and controversies
2010, Clinics in DermatologyCitation Excerpt :Intraoral sites that are less affected include the lips, alveolar ridges, and floor of the mouth. Histopathologic features include epithelial thickening, hyperparakeratosis, and vacuolization of suprabasal keratinocytes.4 Diagnosis is usually established during early childhood, and treatment is not indicated.
This study was supported by Fundação de Amparo a Pesquisa no Estado de Minas Gerais grant FAPEMIG-PROBIC-2005.