Ozbarlas N, Sarikayalar F, Kale G
Hacettepe University, School of Medicine, Institute of Child Health, Ankara, Turkey.
Cutis. 1993 May;51(5):373-4.
Congenital insensitivity to pain with anhidrosis is a rare disorder. Its primary clinical features include congenital analgesia, which leads to self-mutilation; inability to sweat, which leads to defective thermoregulation; and mental retardation. A five-year-old boy with consanguineous parents and no family history of the disorder presented with ulcerating lesions on both knees and elbows. His family had discovered the lack of sensation to pain and anhidrosis. Physical examination revealed ulcers on both knees and elbow, self-mutilation of the tongue, fingers, and toes. Sensation to touch was intact and lacrimation was normal. Moderate mental retardation and analgesia were noted in an otherwise normal neurologic examination. The results of electromyographic examination were normal and the application of pilocarpine showed anhidrosis. A skin biopsy specimen was also examined.
先天性无痛觉伴无汗症是一种罕见的疾病。其主要临床特征包括先天性痛觉缺失，可导致自残行为；无汗，可导致体温调节功能缺陷；以及智力迟钝。一名5岁男孩，父母近亲结婚，家族中无该疾病病史，双膝关节和双肘关节出现溃疡性病变。其家人发现他对疼痛缺乏感觉且无汗。体格检查发现双膝关节和肘关节有溃疡，舌、手指和脚趾有自残行为。触觉正常，流泪功能正常。在其他方面正常的神经系统检查中发现中度智力迟钝和痛觉缺失。肌电图检查结果正常，毛果芸香碱试验显示无汗。还对一份皮肤活检标本进行了检查。
