帕皮永-勒费弗尔综合征。
Papillon-lefevre syndrome.
作者信息
Ahmad Mashkoor, Hassan Iffat, Masood Qazi
机构信息
Department of Dermatology, STD & Leprosy, Govt. Medical College and Associated SMHS Hospital, Srinagar-Kashmir (J&K), India.
出版信息
J Dermatol Case Rep. 2009 Dec 30;3(4):53-5. doi: 10.3315/jdcr.2009.1039.
BACKGROUND
Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. Onset of palmoplantar hyperkeratosis and periodontopathy is most commonly before the age of 4 years.
MAIN OBSERVATIONS
A 15 year old boy with a history of frequent infections presented with hyperkeratosis of palms and soles, which worsened during winter season. Examination of the oral cavity revealed missing mandibular central incisors and left lateral incisors. Most remaining permanent teeth were mobile. Fibrosis and scarring of gingival and labial mucosa restricted opening of the mouth.
CONCLUSION
Early diagnosis of Papillon-Lefevre syndrome may help preserve the teeth. We present a case of a late diagnosis of this syndrome.
背景
掌跖角化-牙周破坏综合征是一种罕见的常染色体隐性疾病，由组织蛋白酶C基因突变导致组织蛋白酶C酶活性缺乏引起。该疾病的特征为掌跖角化过度、乳牙和恒牙缺失以及易感染。掌跖角化过度和牙周病最常发生在4岁之前。
主要观察结果
一名有频繁感染史的15岁男孩出现手掌和脚底角化过度，在冬季加重。口腔检查发现下颌中切牙和左侧侧切牙缺失。大多数剩余恒牙松动。牙龈和唇黏膜的纤维化和瘢痕形成限制了张口。
结论
掌跖角化-牙周破坏综合征的早期诊断可能有助于保留牙齿。我们报告了一例该综合征的晚期诊断病例。
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