Living with EB

Abatract

As has been discussed in great detail throughout this monograph, a variety of extracutaneous complications may arise in the setting of hereditary EB, since essentially any organ having an epithelial surface or lining is at risk for mechanical instability and at least microscopic blister formation. These include the external eye (Chapter 2.2.1), oral cavity (Chapter 2.2.3), esophagus, small and large intestine, and anus (Chapter 2.2.4), tracheolaryngeal tree (Chapter 2.2.2), kidney (Chapter 2.2.6) and other portions of the genitourinary tract (Chapter 2.2.6), to include the vagina. In addition, some patients are at risk of developing acral musculoskeletal deformities (Chapter 2.2.5), muscular dystrophy, or dilated cardiomyopathy (Chapter 2.2.6). Others may later develop skin-derived cancers (Chapter 2.1.3), most notably squamous cell carcinomas, many of which may become life-threatening. Although there is a considerable range in the extent and severity of each of these complications, many may be extremely severe or even disabling.