国内首例厄洛替尼治疗TRPV3基因变异Olmsted综合征并文献复习  

TRPV3-related Olmsted syndrome successfully treated with erlotinib:the first case in China and literature review

作　　者：周诗慧 郭一峰[1] 张卉[1] 姚志荣[1] ZHOU Shihui;GUO Yifeng;ZHANG Hui;YAO Zhirong(Department of Dermatology,Xinhua Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院皮肤科,上海200092

出　　处：《中国麻风皮肤病杂志》2024年第3期176-181,共6页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金(编号:8237349082173413)。

摘　　要：报道国内首例厄洛替尼成功治疗Olmsted综合征。患者,女53岁,左足底角质增厚、干燥皮疹伴疼痛40年,加重4年。组织病理学检查:角化亢进伴角化不全,角层内水肿,粒层减少,表皮角朊细胞部分变性,真皮乳头小血管增生扩张,管周稀疏炎性浸润。基因检测结果示:TRPV3基因变异。根据临床表现、组织病理学及基因检测结果,该患者诊断为Olmsted综合征。确诊后予口服厄洛替尼治疗,每日50 mg,后缓慢减量直至停药。治疗4个月后,双足底皮疹几乎完全清除,疼痛明显缓解。停药后随访2个月皮疹无复发。治疗期间无严重不良反应。To report the first case of Olmsted syndrome successfully treated with erlotinib in China.A 53-year-old woman presented with painful palmoplantar keratoderma on the left foot for 40 years,which had aggravated for 4 years.A plantar skin biopsy revealed a spectrum of features,including hyperkeratosis with incomplete keratosis,intracorneal edema,diminished granular layer,partial degeneration of epidermal keratinocytes,hyperplasia,and dilation of small blood vessels within the dermal papillae,concomitant with a sparse peritubular inflammatory infiltrate.Genetic detection results show heterozygous variants in the TRPV3 gene.Olmsted syndrome was made according the symptom,histopathologic findings and genetic detection.After diagnosis,oral erlotinib was administered 50 mg daily and then tapered till withdrawl.Both plantar lesions almost completely disappeared and the pain was significantly relieved after 4 months of treatment.There was no serious adverse reaction during treatment and no recurrence of rash after 2 months follow-up.

关 键 词：遗传性疾病 OLMSTED综合征 厄洛替尼 TRPV3基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]