Epidermolysis Bullosa (Year of the Zebra)

Living with Epidermolysis Bullosa - Coping with Pain during Bandage Changes (English subtitles)

Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. Over 30 subtypes are recognized, grouped into four major categories, based predominantly on the plane of cleavage within the skin and reflecting the underlying molecular abnormality: EB simplex, junctional EB, dystrophic EB and Kindler EB. Precise diagnosis is reliant on correlating clinical, electron microscopic and immunohistological features with mutational analyses. In the absence of curative treatment, multidisciplinary care is targeted towards minimizing the risk of blister formation, wound care, symptom relief and specific complications, the most feared of which — and also the leading cause of mortality — is squamous cell carcinoma. | Epidermolysis bullosa. Nat Rev Dis Primers 6, 79 (2020). https://doi.org/10.1038/s41572-020-00220-7

Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. Over 30 subtypes are recognized, grouped into four major categories, based predominantly on the plane of cleavage within the skin and reflecting the underlying molecular abnormality: EB simplex, junctional EB, dystrophic EB and Kindler EB. Precise diagnosis is reliant on correlating clinical, electron microscopic and immunohistological features with mutational analyses. In the absence of curative treatment, multidisciplinary care is targeted towards minimizing the risk of blister formation, wound care, symptom relief and specific complications, the most feared of which — and also the leading cause of mortality — is squamous cell carcinoma. | Epidermolysis bullosa. Nat Rev Dis Primers 6, 79 (2020). https://doi.org/10.1038/s41572-020-00220-7