Gönül Müzeyyen, Gül Ülker, Kılıç Arzu, Soylu Seçil, Koçak Oğuzhan, Demiriz Murat
Ankara Numune Education and Research Hospital, Dermatology Department, Ankara, Turkey.
Int J Dermatol. 2015 Mar;54(3):334-7. doi: 10.1111/j.1365-4632.2012.05851.x. Epub 2013 Oct 29.
A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.
一名30岁男性患者出现口腔黏膜和足底病变。其家庭成员无类似症状。皮肤科检查发现其躯干和上肢有毛囊性角化过度，腋窝有肤色、质地坚硬的囊性病变。他的足底和手掌有局限性、疼痛性角化过度区域。除此之外，还观察到颊黏膜、唇黏膜、舌部及口角处有白色角化病和溃疡区域，且牙齿全部脱落。其所有指甲均出现近端分层。实验室检查结果除免疫球蛋白A缺乏外均正常。精神科检查显示轻度智力发育迟缓。先天性厚甲症的角蛋白基因（KRT6a、KRT6b、KRT16和KRT17）突变检测为阴性。由于营养摄入不足，他佩戴了可摘式假牙。随访期间下唇黏膜发生了鳞状细胞癌。我们报告了一名具有不同指甲营养不良、表皮囊肿、智力发育迟缓、睑缘炎、牙齿全部脱落、先天性厚甲症角蛋白基因突变阴性且口腔白色角化病病变发生鳞状细胞癌的个体。我们认为本病例可能是一种不寻常的新型先天性厚甲症。
