RESUMO
White sponge nevus (WSN) is an autosomal dominant skin disorder characterized by white, corrugated and diffuse plaques mainly affecting the oral mucosa. The condition has a high penetrance and variable expressivity, but familial reports are uncommon. This report presents a familial case of WSN in which two sisters are affected by the disorder.
Assuntos
Leucoceratose da Mucosa Hereditária/genética , Doenças da Boca/genética , Doenças Raras/genética , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Leucoceratose da Mucosa Hereditária/patologia , Doenças da Boca/patologia , Doenças Raras/patologia , IrmãosRESUMO
O nevo branco esponjoso é uma desordem autossômica dominante, caracterizada por placas brancas difusas, rugosas, que afetam principalmente a mucosa bucal. A condição tem um alto grau de penetrância e expressividade variada, embora os relatos familiais sejam incomuns. Este artigo relata um caso familiar de nevo branco esponjoso em que duas irmãs são afetadas por esta condição.
White sponge nevus (WSN) is an autosomal dominant skin disorder characterized by white, corrugated and diffuse plaques mainly affecting the oral mucosa. The condition has a high penetrance and variable expressivity, but familial reports are uncommon. This report presents a familial case of WSN in which two sisters are affected by the disorder.
Assuntos
Adolescente , Feminino , Humanos , Leucoceratose da Mucosa Hereditária/genética , Doenças da Boca/genética , Doenças Raras/genética , Diagnóstico Diferencial , Leucoceratose da Mucosa Hereditária/patologia , Doenças da Boca/patologia , Doenças Raras/patologia , IrmãosRESUMO
White sponge nevus is a rare autosomal dominant hereditary disorder manifesting upon physical examination as white symmetric, diffuse, thickened, corrugated or velvety plaques on the oral, esophageal or genital mucosa. They are also found to be bilateral and asymptomatic. The tissue changes can be present at birth or manifest during childhood or adolescence, and this disorder occurs in females more than in males. It is a benign condition since cases of malignancy have not been reported, and it does not require treatment. Therefore, it is important to establish a differential diagnosis to rule out other white lesions that occur on the oral mucosa, mainly those in which there is a risk of malignancy. A case of white sponge nevus is reported along with a discussion on the differential diagnosis and clinical management.
Assuntos
Leucoceratose da Mucosa Hereditária/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/genética , Lábio/patologiaRESUMO
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.