Lethal Junctional Epidermolysis Bullosa (LJEB) is a rare and severe genetic disorder that belongs to the category of Epidermolysis Bullosa (EB), a group of inherited skin conditions characterized by extreme skin fragility and blistering. LJEB specifically affects the junctional zone of the skin, which is responsible for adhering the epidermis to the underlying dermis.
Individuals with LJEB typically present with symptoms shortly after birth or during infancy. The main clinical characteristic is the presence of widespread blistering and erosions on the skin, often in response to minimal trauma or friction. Additionally, LJEB can affect other areas such as the mucous membranes of the gastrointestinal and respiratory tracts, causing complications like difficulty swallowing, breathing, and feeding.
The underlying cause of LJEB is mutations in genes involved in the synthesis of specific proteins that maintain the structural integrity of the skin and mucous membranes, such as laminin-332 or type XVII collagen. These mutations result in a weakened or absent connection between the epidermis and the dermis, leading to blister formation and skin fragility.
Unfortunately, LJEB is associated with a poor prognosis, as the condition is associated with life-threatening complications and a high risk of infections. The term "lethal" in LJEB reflects the severe and often fatal nature of the disorder. Treatment usually involves palliative care, focusing on managing symptoms, preventing infection, and maintaining proper nutrition and hydration.
Due to its rarity and severity, LJEB requires multidisciplinary medical care from dermatologists, geneticists, neonatologists, and other specialists experienced in the management of EB to improve the quality of life for affected individuals and support the affected families.
