Haga Nobuhiko, Okada Keita, Tanaka Hiroshi, Fujiwara Sayaka, Kubota Masaya
National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan.
Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, Japan.
Prosthet Orthot Int. 2024 Sep 4;49(3):294-297. doi: 10.1097/PXR.0000000000000382.
Congenital insensitivity to pain with anhidrosis is an extremely rare disorder characterized by congenital generalized loss of pain and thermal sensation, decreased sweating, intellectual disability, and self-mutilating behavior. Skeletal complications can develop even after minor trauma or an unknown cause, and management is difficult and sometimes unsuccessful, leading to the development of Charcot joints. We report 3 patients whose hip instability was treated with a hip action brace (HAB) that allowed for free abduction but prevented adduction. In 2 patients, metal attachments were added to bilateral joint units to prevent the patient's hip joints from flexing over 90 degrees. The HAB was well tolerated by all patients, and no adverse effects, such as pressure ulcers, occurred during this treatment. Of the 6 hips with instability, 1 remained dislocated, and 5 were stabilized after several years of HAB application. However, 3 joints in 2 patients aged between 14 and 16 years were subluxated or dislocated, leading to joint destruction. The follow-up period from the application of HAB until the most recent visit ranged from 10 to 13 years, and all patients reached skeletal maturity. Our experience suggests that HAB treatment is effective in reducing hip instability and maintaining stability for at least several years in children with congenital insensitivity to pain with anhidrosis.
先天性无痛觉伴无汗症是一种极为罕见的疾病，其特征为先天性全身性痛觉和温度觉丧失、出汗减少、智力残疾以及自残行为。即使在轻微创伤或不明原因后，也可能出现骨骼并发症，且治疗困难，有时甚至不成功，进而导致夏科关节的形成。我们报告了3例髋关节不稳定患者，他们接受了髋关节活动支具（HAB）治疗，该支具允许自由外展但防止内收。在2例患者中，在双侧关节单元上添加了金属附件，以防止患者髋关节屈曲超过90度。所有患者对HAB耐受性良好，治疗期间未出现压疮等不良反应。在6个不稳定的髋关节中，1个仍处于脱位状态，5个在应用HAB数年之后实现了稳定。然而，2例年龄在14至16岁之间的患者中有3个关节出现半脱位或脱位，导致关节破坏。从应用HAB到最近一次随访的时间为10至13年，所有患者均达到骨骼成熟。我们的经验表明，对于先天性无痛觉伴无汗症患儿，HAB治疗在减少髋关节不稳定以及维持至少数年的稳定性方面是有效的。
