A CASE REPORT OF EPIDERMOLYSIS BULOSA IN INDONESIA
Henni WahyuTriyuniati,Mulya Rahma Karyanti
Background : We reported a case of epidermolysis bullosa (EB) in a twenty-month-old Indonesian boy in our hospital. Prevalence of EB was estimated around 10 cases per million live birth based on data from Australasian EB registry. Clinical manifestations of EB are recurring blisters complicated with secondary skin infection, anaemia and severe malnutrition. EB is an orphan disease and thus making the diagnosis of EB is difficult. In the absence of cure, supportive wound care and treatment of EB complications remain a challenge.
Case Presentation Summary : Twenty-month-old male patient was referred from a local hospital with chronic, non-healing, multiple skin blisters induced by mild friction/trauma with nail dystrophy present since birth. Lesions were bullous with erythematous plaque and pus in some areas as evidence of secondary skin infection. Blister tend to affect trauma-prone areas including perioral, skin-folds, and buttocks. Causes of allergy, autoimmune disease, or child abuse were excluded. EB diagnosis was confirmed by skin biopsy showing skin-separation at dermo-epidermal junction. Immunofluorescence antigen mapping to identify absence of collagen was not performed due to reagent availability issue. Secondary skin infection was cultured and treated with combination of intravenous antibiotics with septic dose. Anaemia and malnutrition secondary to EB were managed accordingly. Regular wound care was performed by dermatology team using hydrating dressing, topical antibiotics, and gentle cleansing with saline solution. Patient was discharged after recovery of the skin infection, wound size reduction, and improved nutritional status to underweight.
Learning Points/Discussion : EB is a complex disease and imposes devastating complications including anaemia, growth failure and pubertal delay. Absence of cure and limited understanding in its management will lead to suboptimal patient care. This case report shares our clinical experience in EB management in Indonesia, and emphasises the importance of multi-disciplinary approach whom paediatricians play the leading role. Clinical guidelines are fundamental for better clinical practice and patient care in such rare disease as EB.