Epidermolysis bullosa simplex

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	Epidermolysis bullosa simplex;
ICD-10	Q81.0
ICD-9	757.39
OMIM	131900 131760 131800 131960
DiseasesDB	4334
eMedicine	derm/124
MeSH	D016110

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2]

Overview

Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.

Blister formation of EBS is within the basal keratinocyte of the epidermis. Sometimes EBS is called epidermolytic.

Subtypes

There are four subtypes of EBS:

EBS - Weber-Cockayne (EBS-WC)
EBS - Koebner (EBS-K)
EBS - Meara (EBS-DM)
EBS - Mottled pigmentation (EBS-MP)

Weber-Cockayne

Weber-Cockayne is the mildest form of EBS, leading to blistering of the hands and feet since these are most susceptible to frequent abrasion. The presence of heat and humidity, either through climate or physical activity, accelerates the formation of blisters. Typically, the blisters formed are tense and painful, and make walking difficult. Carefully lancing, draining and bandaging the blisters can provide relief and prevent them from expanding.

Koebner

Koebner results in generalised blisters.

Dowling-Meara

Dowling-Meara (EBS-DM) is the most severe form of EBS, leading to clusteres of blisters and spherical keratin aggregates. It results from a missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H)