Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija
D. Despodovska Pejkov
Otroški oddelek, Splošna bolnišnica Novo mesto, Novo mesto, Slovenija
Dermatovenerološka klinika, Otroški oddelek, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited skin disorders characterized by extreme skin fragility that manifests itself as blister formation either spontaneously or in response to minor mechanical trauma. EB is caused by inborn mutations of genes that code for proteins responsible for the integrity of skin layers. Changes in the epithelial layer of various organs (eyes, gastrointestinal tract, etc.) are also possible. The disease usually presents immediately after birth (depending on the type) and needs to be differentiated from other neonatal skin diseases that manifest as blisters and erosions. Timely diagnosis is essential for the institution of appropriate skin care and prevention of complications. Current research on the molecular basis of EB will assist in the development of new diagnostic tools, including prenatal and preimplantation testing, and also enable new treatment options (gene and protein-based therapy). We present a review of EB, classification, diagnosis and management of the disease in the neonatal period.
Key words: epidermolysis bullosa, blisters, newborn