先天性甲肥厚症Ⅰ型一家系调查  

Pachyonychia congenita style I:a pedigree report

作　　者：马慧军[1] 赵广[1] 韩德奎[1] 刘雯[1] 李东光[1] 史飞[1] 

机构地区：[1]中国人民解放军空军总医院皮肤科,北京100036

出　　处：《临床皮肤科杂志》2007年第3期153-155,共3页Journal of Clinical Dermatology

摘　　要：报告先天性甲肥厚症一家系,4代17人中有8人患病,8例患者均于出生后不久即有甲变色,继而甲增厚,2～4岁时出现掌跖角化,局部摩擦后可发生水疱和糜烂。部分患者有舌苔白腻,所有患者均未见胎生齿及脂囊瘤。先证者双肘膝关节毛囊角化性丘疹,足趾及跖部灶性胼胝样角化过度,20甲营养不良。该家系中有2例患者2岁时因突发急性呼吸困难抢救无效而死亡。A pedigree with pachyonychia congenita style I is reported, in which 8 family members of 4 generations were affected. All patients had typical clinical features of pachyonychia congenita style I, such as thickening of the nail, palmoplantar hyperkeratosis and blister with friction and some of them presented slim white fur of tongue. There were no natal teeth and the pilosebaceous cysts. Proband also had special clinical feature including follicular hyperkeratosis on the elbows and knees, and onychedystrephy of 20 nails as well. Different from other pedigree with pachyonychia congenita reported before, there were two patients who suffered from acute dyspneic respiration at their age of 2 and finally died without effect of prompt rescue.

关 键 词：甲肥厚 先天性 调查 家系 

分 类 号：R758.72[医药卫生—皮肤病学与性病学]