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