Epidermolysis Bullosa: A Case Report

Epidermolysis bullosa (EB) encompasses rare genetic skin fragility disorders caused by mutations in over 20 distinct genes, characterized by mucocutaneous fragility and blistering, with no curative therapy. A 37-year-old male with consanguineous parents presented with a 6-year history of recurrent painful oral erosions refractory to traditional Chinese medicine and lifelong generalized cutaneous exfoliation. Oral examination revealed extensive erythematous erosions with leukoplakic changes, positive Nikolsky sign, enamel pitting, microstomia, and severe periodontitis. Cutaneous manifestations include generalized exfoliation with hyperpigmentation, hypotrichosis, and hyperhidrosis. Musculoskeletal abnormalities included limb deformities, digital contractures, and nail dystrophy. Buccal mucosal biopsy revealed mucosal hyperkeratosis with parakeratosis, basal layer liquefaction, and dense chronic inflammatory infiltrates. The constellation of consanguineous parentage, multisystem involvement, and histopathological findings supports a provisional diagnosis of epidermolysis bullosa (EB), immunofluorescence mapping and genetic sequencing are recommended for confirmation. The patient has been enrolled in a multidisciplinary team (oral medicine/dermatology/pain/psychology). Our department initiated local symptomatic treatment with improvement in oral lesions. EB diagnosis relies on the combined use of immunofluorescence mapping, transmission electron microscopy, and genetic sequencing. Current management focuses on pain control, wound care, minimization of complications, and carcinogenesis surveillance. Novel antibody and cytokine therapies show promising potential. Key shortcomings requiring improvement include diagnostic delays, limited treatment, inadequate SCC surveillance, and neglected mental health support. EB diagnosis requires multimodal evaluation with selective genetic testing to prevent misdiagnosis. Multidisciplinary therapy effectively controls symptoms and reduces complications.