da Silva Santos Paulo Sérgio, Mannarino Francesco, Lellis Rute F, Osório Luis Henrique
Bauru School of Dentistry, University of São Paulo, Brazil.
Dermatol Online J. 2010 Oct 15;16(10):3.
Pachyonychia congenita is a rare genetic disorder characterized mainly by hypertrophy of the nails and hyperkeratosis of the skin and mucosae. Fifty percent of all patients have oral leukokeratosis, which is often painful. The case reported here is of a 41-year-old patient who had white lesions in the form of irregular plaques; these affected multiple regions of the oral mucosa and were sensitive to touch. Histological examination revealed acanthosis, parakeratosis and ballooning of the epithelial cells, consistent with oral leukokeratosis. After therapy including topical steroids and prosthetic rehabilitation, the symptoms resolved.
先天性厚甲症是一种罕见的遗传性疾病，主要特征为指甲肥厚以及皮肤和黏膜的角化过度。所有患者中有50%患有口腔黏膜白斑病，通常会有疼痛感。此处报告的病例为一名41岁患者，其口腔出现不规则斑块状白色病变；这些病变累及口腔黏膜的多个区域，触之敏感。组织学检查显示棘层肥厚、不全角化及上皮细胞气球样变，符合口腔黏膜白斑病。经过包括局部使用类固醇和修复治疗在内的治疗后，症状得以缓解。
