Epidermolysis bullosa (EB) refers to a family of rare genodermatoses characterized by an inherited tendency toward recurrent cutaneous and mucosal blistering at sites of mechanical trauma. According to the National Epidermolysis Bullosa Registry, EB affects approximately 12,500 individuals in the United States, with an incidence of 50 new EB cases per 1 million live births annually.1
Historically, EB has been classified into a variety of subtypes based on clinical findings, and a growing number of eponyms and otherwise distinctive EB variants have been described in the literature. The current classification system, however, which was revised in 2008, divides EB into four major types based on the ultrastructural level of blister formation: EB simplex, junctional EB (JEB), dystrophic EB, and Kindler syndrome.2 In general, patients with EB simplex have a milder phenotype, and patients with junctional and dystrophic EB have a more severe phenotype; however, there are particularly severe variants of EB simplex, as well as milder forms of junctional and dystrophic EB. Kindler syndrome is a very rare EB variant characterized by recurrent blistering, photosensitivity, cutaneous atrophy, poikiloderma, and systemic complications due to mucosal blistering.
Depending on the particular genotype, the clinical manifestations of EB may range from minimal blistering of the hands and feet to severe, widespread, mutilating blistering that can involve the epithelial mucosa of other organ systems. Although all patients with EB are at risk for complications such as pain, infection, and scarring, those with more severe variants are also at risk for a multitude of chronic morbidities, including nutritional deficiencies and failure to thrive, severe scarring and contractures, cutaneous squamous cell carcinomas, laryngeal complications, esophageal strictures, and ocular complications that may lead to blindness.3,4
The care of a patient with EB involves a multidisciplinary approach and must incorporate a variety of lifestyle modifications and specialized skin care to minimize disease severity and complications. Some of the acute and chronic complications associated with EB lead to hospitalization for inpatient management. In addition, hospitalists may be involved with the initial presentation of EB in the neonate or young infant.
Hospital management of a patient with EB requires a comprehensive understanding of the expected clinical features, severity, and complications based on the type of EB present. For example, when caring for a patient with RDEB, it is imperative to know what is generally considered “normal” to see on physical examination. Interpreting clinical information in an appropriate context is essential for providing the highest level of complex care, especially in patients with more severe types of EB. In addition, as a general hospitalist, it is also vital to remember that individuals with EB are also susceptible to other diseases or conditions that may be seen in the general population. It is therefore important to consider all potential etiologies of the patient’s presenting symptoms when formulating a differential diagnosis and to avoid the temptation to ...