Junctional Epidermolysis Bullosa (JEB) is a rare inherited blistering disorder characterized by extreme skin fragility. It is associated with COL17A1 mutation that is critical for dermoepidermal adhesion. Effective management in resource-limited settings is challenging and focuses on wound care and trauma prevention to prevent complications and improve quality of life.

A 27-year-old Filipino female presented with recurrent blisters and erosions since infancy, accompanied by diffuse alopecia and anonychia of the toenails. On physical examination, she presented with multiple, well-defined, erythematous tense vesicles and bullae on the trunk, upper and lower extremities which were triggered by minor trauma to the skin. Skin punch biopsy was done revealing a subepidermal blistering dermatosis while direct immunofluorescence (DIF) and Enzyme-Linked Immunosorbent Assay (ELISA) tests for BP180, BP230, and type VII collagen were negative. Genetic testing was done and revealed compound heterozygous mutations in the COL17A1 gene, consistent with JEB. She was managed with non-adhesive dressings, sterile aspiration of blisters, and nutritional support. Despite the severity of her condition, the patient experienced significant improvement in wound healing and quality of life through meticulous wound care, trauma prevention and nutritional support.

This case highlights the unusual case of a 27-year-old Filipino female with JEB who has survived into adulthood, a rarity given the typically poor prognosis associated with severe forms of the disease.

Human ; Female ; Adult: 25-44 Yrs Old ; Epidermolysis Bullosa ; Quality Of Life