Recently, doctors from the Burns Unit – Department of Orthopedics at the Vietnam National Children’s Hospital received and treated baby girl P.G (13 days old, from Thanh Hoa) who was transferred to the hospital due to congenital blistering epidermolysis bullosa (EB) – a rare genetic disorder.
According to the father of the patient, P.G is their first child, delivered by cesarean section at the district health center at 39 weeks of gestation, weighing 3.6 kg at birth. However, immediately after birth, the entire lower legs, both feet of the baby were blistered, with loss of surrounding skin patches, and leaking fluid. Immediately, the child was transferred to the provincial hospital for treatment. Here, doctors diagnosed the baby with congenital blistering epidermolysis bullosa, treated the baby, cared for the wounds, but the condition progressed slowly and was transferred to the Vietnam National Children’s Hospital at 13 days old.
At the Burns Unit – Department of Orthopedics – Vietnam National Children’s Hospital, the patient was admitted with extensive blistering wounds on both lower legs and feet, leaking a lot of fluid, causing difficulties in treatment. After examination and necessary clinical tests, P.G was treated with antibiotics to prevent infection, daily wound care with antiseptic solutions and bactericidal biological dressings, promoting tissue regeneration, protecting the skin layer, avoiding further detachment when changing bandages and care, combined with proper nutrition, lying in a well-ventilated room to prevent infection. As a result, after about 1 month of treatment, the condition of the child’s wounds improved and stabilized. The child was discharged, instructed for home care, and scheduled for regular follow-up appointments.
According to Dr. Phung Cong Sang, Deputy Head of the Burns Unit, Department of Orthopedics at the Vietnam National Children’s Hospital: Congenital blistering epidermolysis bullosa is a rare disease in young children due to genetic mutations with both dominant and recessive inheritance. Children with this condition always have to cope with pain because the outermost layer of the skin is easily detached from the underlying structure, leading to extensive skin damage, causing the child to lose fluid and protein, prone to infection and high risk of septicemia. In severe cases, children may have damage to the oral mucosa, digestive, respiratory, and urinary tract, making treatment difficult, leaving narrow scar sequelae in the digestive, respiratory tract, poor prognosis, if not treated conclusively and timely, the risk of death is high due to complications.
Additionally, improper dressing changes and wound care for the child’s motor area will leave sequelae such as adhesion of fingers, toes, joint deformities, and the child will need surgery for correction in the future.
At the Burns Unit – Department of Orthopedics at the Vietnam National Children’s Hospital, every year, about 5-7 patients with this special condition are received and treated. Currently, there is no specific medication for children with this disease, the treatment method mainly focuses on symptom relief such as wound care, providing adequate nutrition, preventing infection, avoiding scar contractures, motor organ deformities. As the child grows older, the symptoms usually improve gradually.
“The only way to prevent this disease is for parents not to have children when both parents have been diagnosed with mutant genes. For parents with dominant genetic inheritance, if they want to have children, they need to be diagnosed before birth to ensure that the child is born healthy and not sick.” – Dr. Phung Cong Sang advised.
