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Mechanobullous Disorders

»	What are the mechanobullous disorders?
»	Do all of the blisters that form in EB develop in the same layer of the skin?
»	How is EB classified, and what are the major modes of inheritance?
»	Describe the clinical findings in EB simplex.
»	Is the cause of EB simplex known?
»	What are the clinical findings in junctional EB?
»	Is the cause of junctional EB known?
»	What are the clinical findings in dystrophic EB?
»	Is the cause of dystrophic EB known?
»	What is Kindler’s syndrome?
»	Can a definitive diagnosis of the various EB types be made on clinical presentation?
»	Are there any treatments for the mechanobullous disorders?
»	Are prenatal diagnostic techniques useful for this group of disorders?

How is EB classified, and what are the major modes of inheritance?

In the past, there were three major categories of EB, depending on the level of the blister, and numerous subtypes within each category. In 2008, the Third International Consensus Meeting on Diagnosis and Classification of EB was published. In this manuscript, there was an attempt to simplify classification and eliminate misleading terms and acronyms. EB is now divided into four major categories:

Epidermolysis bullosa simplex
- Localized: Epidermis (basal layer); autosomal dominant
- Generalized: Epidermis (basal layer); autosomal dominant

Junctional epidermolysis bullosa
- Lethal: DEJ; autosomal recessive
- Nonlethal: DEJ; autosomal recessive

Dystrophic epidermolysis bullosa
- Dominant DEB: Dermis; autosomal dominant
- Recessive DEB: Dermis; autosomal recessive

Kindler’s syndrome: Mixed; autosomal recessive

Fine JD, Eady RA, Bauer EA, et al: The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB, JAAD 58(6):931–950, 2008.