Dental Consideration for the Treatment of Congenital Insensitivity to Pain and Anhidrosis Syndrome - A Case Report

先天性痛覺不敏感合併無汗症症候群之牙科治療考量－病例報告

謝旻桓(Min-Huan Hsieh) ； 趙子婷(Tzu-Ting Chao)

《臺灣兒童牙醫學雜誌》 20卷3期 (2020/09) Pp. 107-112

https://doi.org/10.6319/TJPD.202009_20(3).0003

摘要

Congenital Insensitivity to Pain and Anhidrosis Syndrome is a r rare autosomal recessive disorder, mainly caused by mutations in the gene NTRK1, characterized by unexplained fever episodes, anhidrosis, pain insensitivity, self-mutilating behavior, and mental retardation. The lack of sensitivity to pain results in traumatic lesions, such as ulcers and scar, fractures, burns, and scars. The case presented a 7 years old boy with mental retardation who visited to our OPD due to due to exfoliation of tooth. Intraoral examination revealed scar tissue over the tongue and buccal mucosa. The wound of exfoliated tooth 83 was good. However, two days later, the sequestrum appeared accompanied by the shedding of tooth 84. The diagnosis was osteomyelitis. After antibiotic treatment, the sequestrum dislodged but osteomyelitis still spread to tooth 44 and 45. Tooth 45 was extracted finally after 4 months treatment. Congenital Insensitivity to Pain and Anhidrosis Syndrome usually showed oral self-mutilation behavior. The patient often developed severe oral ulcer before the age of three years ago, tooth self-extraction behavior and occlusal trauma Fortunately, as the age increases, most patients can gradually control the behavior. Dental treatment focuses on prevention, and early diagnosis and proper protection can avoid injury.

關鍵字

Congenital Insensitivity to Pain and Anhidrosis Syndrome ； pain ； self-mutilating behavior ； insensitivity

並列摘要

先天性痛覺不敏感合併無汗症症候群為罕見的體染色體隱性遺傳疾病，主要為基因NTRK1的突變所引起，特徵為時常不明原因的發燒、心智發展遲緩、無汗症、痛覺不敏感以及反覆的自殘行為。在喪失痛覺下，患者容易骨折、燒傷、潰瘍以及疤痕組織的產生。此病童的年齡為七歲、為心智發展遲緩患者，因為牙齒的脫落前來就診。口內檢查發現張口受限、位於舌頭以及頰黏膜的疤痕組織。下顎右側乳犬齒脫落、傷口狀況良好。然而兩天後腐骨出現伴隨著下顎右側乳第一大臼齒的脫落，診斷為骨髓炎，經由抗生素治療、可見腐骨脫落，但骨髓炎依然蔓延到下顎右側第一、第二小臼齒。最終拔除了下顎右側第二小臼齒。先天性不敏感疼痛合併無汗症症候群常見口腔的自殘行為，三歲以前牙齒萌發之際便產生嚴重的口腔潰瘍，之後常見牙齒自拔行為，咬合創傷。幸運的是、隨者年紀的增長，患者多半能逐漸控制自殘行為。牙科治療著重於預防，若能早期診斷、給予適當的保護就能避免傷害的產生。

並列關鍵字

先天性不敏感疼痛合併無汗症 ； 自殘行為 ； 痛覺不敏感