Lee Michael R, Wong Li-Chuen F, Fischer Gayle O
Department of Dermatology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
Australas J Dermatol. 2005 Aug;46(3):199-201. doi: 10.1111/j.1440-0960.2005.00180.x.
A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon-Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease.
一名7岁男孩，其父母为近亲结婚，自3个月大起就患有掌跖角化病和慢性牙龈炎。他被诊断为帕皮永-勒费夫尔综合征。基因检测证实，他在组织蛋白酶C基因第6外显子存在一个点突变的纯合子。在开始每天口服10毫克阿维A和复方新诺明治疗一年后，患者皮肤几乎无病变，并且在治疗期间长出了新牙，没有牙周疾病。
