Oral medicine
White sponge nevus: report of a three-generation family

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Objective

White sponge nevus (WSN) is a rare autosomal dominant disorder that results in soft, white, and spongy plaques in the oral mucosa. The aim of this study was to describe the clinical, histopathologic, and genetic features of a family, spanning 3 generations, affected by WSN.

Study design

This study was performed using a cross-sectional layout analyzing a family with WSN.

Results

Clinical examination of family members revealed that of 23 descendants, 8 (34.78%) had WSN features. Unaffected and affected members transmitted the disease to their offspring. The offspring recurrence risk was 0.34, and an incomplete level of penetrance was observed. The lesions showed many clinical and histopathologic similarities to cases previously reported. The most affected sites were buccal and labial mucosa, with a rare appearance in the palate. No extraoral lesion was found. Histological examination showed intense acanthosis and hyperparakeratosis-induced epithelial hyperplasia. Within the spinous layer, cells showing perinuclear eosinophilic condensation of the cytokeratin (CK) filaments were frequent.

Conclusion

The disease was transmitted by an autosomal dominant mode of inheritance, appearing mainly in the buccal and labial mucosa.

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

References (16)

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This study was supported by Fundação de Amparo a Pesquisa no Estado de Minas Gerais grant FAPEMIG-PROBIC-2005.

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