White sponge nevus: report of a three-generation family

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 Th...

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Published in:	Oral surgery, oral medicine, oral pathology, oral radiology and endodontics Vol. 103; no. 1; pp. 43 - 47
Main Authors:	Martelli, Hercílio, DDS, PhD, Pereira, Samantha Mourão, Rocha, Thábata Martins, Nogueira dos Santos, Paulo Luis Antônio, DDS, MSc, Batista de Paula, Alfredo Maurício, DDS, PhD, Bonan, Paulo Rogério Ferreti, DDS, PhD
Format:	Journal Article
Language:	English
Published:	St. Louis, MO Mosby, Inc 2007 Elsevier
Subjects:	Biological and medical sciences Cross-Sectional Studies Dentistry Dermatology Family Female Genes, Dominant Humans Leukokeratosis, Hereditary Mucosal - genetics Leukokeratosis, Hereditary Mucosal - pathology Male Medical sciences Mouth Diseases - genetics Mouth Diseases - pathology Mouth Mucosa - pathology Otorhinolaryngology. Stomatology Pedigree Penetrance Surgery Tumors of the skin and soft tissue. Premalignant lesions Eye disease Skin disease White sponge nevus Family study Family environment Oral cavity disease Genetic disease
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1079-2104 1528-395X
DOI:	10.1016/j.tripleo.2006.05.029