中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (5): 363-366.doi: 10.12144/zgmfskin202605363

• 病例报告 • 上一篇    下一篇

交界性大疱性表皮松解症伴皮肤多发窦道一例

Baiq Nickte Annizha Khalik,詹坤,周兴丽,许可沁,滕熠,李薇   

  1. 四川大学华西医院皮肤科，四川成都，610041
  • 出版日期:2026-05-15 发布日期:2026-05-11

Junctional epidermolysis bullosa with cutaneous sinus tracts: a case report

Baiq Nickte Annizha Khalik, ZHAN Kun, ZHOU Xingli, XU Keqin, TENG Yi, LI Wei   

  1. Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China
  • Online:2026-05-15 Published:2026-05-11

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摘要： 患者，女，54岁。全身皮肤反复水疱、糜烂54年，伴臀腿部皮肤溃疡，窦道4年。全外显子组测序提示LAMB3基因突变。患者头痛病史3年，长期口服布洛芬治疗。皮肤科生活质量指数(DLQI):15(重度影响)，躯体症状群量表(PHQ-15)13分（中度躯体化）,广泛性焦虑障碍量表(GAD-7)6分（轻度焦虑），人格障碍问卷：分裂样人格障碍。诊断为交界性大疱性表皮松解症，皮肤感染，紧张性头痛，焦虑状态。多学科会诊后予窦道填塞引流、抗感染等综合治疗，并辅以营养支持和心理干预。治疗1个月后患者皮损好转，头痛减轻。随访2个月，皮肤糜烂范围减小，窦道基本愈合，DLQI、PHQ-15及GAD-7评分下降。

关键词: 交界性大疱性表皮松解症, 皮肤感染, 窦道, 身心医学

Abstract: A 54-year-old female patient presented with recurrent blisters and erosion over the entire body for 54 years, accompanied by skin ulcers and sinus tracts on the buttocks and legs for 4 years. Whole-exome sequencing revealed a LAMB3 gene mutation. She had a 3-year history of headache, managed with long-term oral ibuprofen. The Dermatology Life Quality Index (DLQI) scoe was 15, indicating severe impairment of quality life. The Patient Health Questionnaire-15 (PHQ-15) score was 13, indicating moderate somatization; the Generalized Anxiety Disorder-7 (GAD-7) score was 6, suggesting mild anxiety. Personality disorder questionnaire showed schizoid personality disorder. The patient was diagnosed with junctional epidermolysis bullosa (JEB), skin infection, tension headache, and anxiety state. After multidisciplinary consultation, comprehensive treatments including sinus packing and drainage, anti-infective therapy, nutritional support, and psychological intervention were administered. After 1 month of treatment, the skin lesions and headache were alleviated. At the 2-month follow-up, the extent of skin erosion was reduced, the sinus tracts were nearly healed, and the scores of DLQI, PHQ-15, and GAD-7 were decreased.

Key words: junctional epidermolysis bullosa, cutaneous infection, sinus tract, psychology