Congenital insensitivity to pain with anhidrosis presenting with palmoplantarkeratoderma
Congenital insensitivity to pain with anhidrosis presenting with palmoplantarkeratoderma
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先天性对疼痛不敏感伴无汗症，表现为掌跖角化症
DOI：
10.1111/j.1525-1470.2012.01833.x
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Rezaei N
中科院分区：
文献类型：
--
作者：
Sayyahfar S;Chavoshzadeh Z;Khaledi M;Madadi F;Yeganeh MH;Sawamura D;Nakano H;Rezaei N
先天性无汗性疼痛不敏感(CIPA)是一种罕见的常染色体隐性遗传病，由NTRK1基因突变引起。这种疾病的特点是对疼痛不敏感，缺乏热觉。在这个病例中，一名6岁男孩的右脚底出现大面积溃疡，手掌和脚底出现厚厚的过度角化现象；此外，他还有发热、汗水、复发性骨折、骨髓炎、损伤、智力低下、皮肤干燥和剥落、对疼痛不敏感和缺乏热感的病史。遗传学研究发现NTRK1基因存在纯合子突变。虽然患者最初表现为掌跖角化病，但遗传学研究证实了CIPA的诊断。
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal‐recessive disease caused by mutations in theNTRK1gene. The disease is characterized by insensitivity to pain and absence of thermal perception. Herein a 6‐year‐old boy is presented with a large ulcer on the sole of his right foot and a thick, hyperkeratotic appearance of his palms and soles; there was also a medical history of hyperthermia, anhidrosis, recurrent bone fractures, osteomyelitis, injuries, mental retardation, dry and exfoliative skin, insensitivity to pain, and lack of thermal sensation. Genetic studies revealed a homozygote mutation in theNTRK1gene. Although the patient initially presented with palmoplantar keratoderma, genetic studies confirmed the diagnosis of CIPA.