中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (3): 176-181.doi: 10.12144/zgmfskin202403176

• 论著 • 上一篇    下一篇

国内首例厄洛替尼治疗TRPV3基因变异Olmsted综合征并文献复习

周诗慧,郭一峰,张卉,姚志荣   

  1. 上海交通大学医学院附属新华医院皮肤科，上海，200092
  • 出版日期:2024-03-15 发布日期:2024-02-27

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

ZHOU Shihui, GUO Yifeng, ZHANG Hui, YAO Zhirong   

  1. Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China
  • Online:2024-03-15 Published:2024-02-27

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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。

关键词: 遗传性疾病, Olmsted综合征, 厄洛替尼, TRPV3基因

Abstract: 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.

Key words: genetic diseases, Olmsted syndrome, erlotinib, TRPV3 gene