Diagnosis

EBH is usually diagnosed early, as it is primarily characterized by the formation of blisters due to structural fragility of the skin tissues. EBH is caused by mutations leading to a lack of skin resistance, resulting in detachment at the slightest friction. This fragility also causes impaired wound healing, with lesions remaining open for several months or even over a year. In France, diagnosis is systematically confirmed through genetic analysis to determine the specific type of EB affecting the patient.

Management of the disease

Current treatment is symptomatic and includes wound care, antibiotic therapy for infections, nasogastric or gastrostomy feeding tubes to prevent malnutrition, and iron supplementation or blood transfusions to treat anemia. Patients may also receive chemotherapy for skin carcinomas, which are particularly common in DEB patients.

Wound care involves the topical application of antiseptic and anti-inflammatory products (creams, gels, etc.). Other treatments include healing ointments or local gene therapy. Preventive dressings secured with bandages can be used to cover up to 70% of the body to prevent new lesions. Currently, there is no systemic treatment for EB.

Living with the disease

Often referred to as the "worst disease in the world," EB is a condition associated with extreme suffering, an unfavorable prognosis, and high mortality in its most severe forms. Quality of life is severely impacted by the intense pain caused by the lesions (comparable to burns) and the fragility of the skin, which prevents physical contact and requires constant vigilance. Everyday objects can become dangerous.

Nicknamed "butterfly children" due to their fragile skin, young EB patients experience significant psychological suffering in addition to their physical pain. Frequent and regular medical monitoring is necessary to prevent and treat infections and skin tumors, as sepsis and cancer are the two leading causes of early death in EB patients.