Inherited Epidermolysis Bullosa: A Clinical Case

The document presents a clinical case of a 37-year-old male with inherited epidermolysis bullosa (EB), specifically the dystrophic subtype, caused by a mutation in the COL7A1 gene. The patient experiences severe skin fragility, blisters, contractures, pseudosyndactyly, and extracutaneous manifestations such as esophageal stenosis and chronic renal failure. The document also provides an overview of EB, including its classification into four main types and over 30 subtypes, and the broader impact of the disease, which affects approximately 500 individuals in Spain. It highlights the importance of diagnostic tools like immunofluorescence mapping and next-generation sequencing, which have high detection rates for EB mutations, and discusses the potential of new therapeutic strategies despite the lack of a cure. The document also emphasizes the need for a multi-professional clinical team for patient management and the significant impact of EB on patients and their families.