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Overview of the management of epidermolysis bullosa

INTRODUCTION

Epidermolysis bullosa (EB) is a heterogeneous group of hereditary mechanobullous diseases characterized by varying degrees of skin and mucosa fragility caused by mutations in skin structural proteins. There are four major types of EB, based upon the ultrastructural level of tissue cleavage in the skin: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome (table 1) [1-3]. Severity is determined by the level of blistering and type of mutation and is highly variable among subtypes of EB (table 2A-C).

There is no targeted therapy for EB, although this is an active area of investigation [4-6]. The management of patients with EB is largely supportive and includes wound care and prevention and treatment of complications.

This topic will provide an overview of the management of EB. The pathogenesis, clinical characteristics, and diagnosis of EB are discussed separately. (See "Epidemiology, pathogenesis, and clinical features of epidermolysis bullosa" and "Diagnosis of epidermolysis bullosa".)

GENERAL PRINCIPLES

Supportive care — There is no specific therapy for any form of epidermolysis bullosa (EB). Treatment is largely supportive and includes wound care, control of infection, nutritional support, and prevention and treatment of complications.

The management of patients with EB involves a multidisciplinary team usually composed of a dermatologist, an EB nurse, primary care provider, occupational therapist, nutritionist, and social worker. Specialists, including gastroenterology, ophthalmology, nephrology, hematology, endocrinology, cardiology, pain management, plastic surgery, and specialized dentistry, are consulted as needed.

                                 

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Literature review current through: Jun 2014. | This topic last updated: Jan 20, 2014.
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