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Dermatology

Inherited epidermolysis bullosa: this dermal disease is beyond skin deep

Ryan J. Keefe, MPAS, PA-C

 

Inherited epidermolysis bullosa (EB) is a rare skin disease that manifests as painful cutaneous erosions and blistering following minor skin trauma. Severe debilitation and pain can result when EB affects the gastrointestinal, oral/dental, ophthalmologic, musculoskeletal, and hematologic systems, as it may in patients with recessive autosomes and more severe disease. In the most severe cases, infection through open wounds and overwhelming sepsis can cause death at birth or shortly thereafter. EB affects males and females equally and occurs in approximately 20 live births per million in the United States. This is slightly greater than twice the disease’s estimated prevalence, and is consistent with the mortality rates seen in the many subtypes of EB.

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