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Genetic disorder characterized by cutaneous blistering and scarring following minor trauma.

Epidermolysis Bullosa

Different stages of epidermolysis bullosa on the leg of an infant.

Epidermolysis Bullosa

Severe, autosomal recessive form of epidermolysis bullosa.

Epidermolysis Bullosa

Epidermolysis bullosa results in painful mutilations of the arms. Similar findings are found on the legs. Vascular access may be very challenging in these patients.

More than 20 different subtypes of the disease are grouped into three main categories: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), and junctional epidermolysis bullosa (JEB).

Junctional epidermolysis bullosaHerlitz type (lethal type)
Non-Herlitz type
JEB with pyloric atresia (Carmi syndrome)
Epidermolysis bullosa simplexWeber-Cockayne type
Dowling-Mara type (EBS herpetiformis)
Koebner type
Dystrophic epidermolysis bullosa

Seems to vary widely, depending on the country, from as high as 1:12,500 in the United States and 1:17,000 in the United Kingdom to 1:300,000 in Canada. The incidence of DEB and EBS is approximately 2 in 100,000, for each of them.

DEB has two modes of transmission that are autosomal dominant and more frequently autosomal recessive. EBS is inherited as an autosomal dominant trait. JEB form is an autosomal recessive trait.

In EBS, skin separation occurs at the level of mid basal cells and is most commonly associated with mutations affecting the genes responsible for keratins 5 and 14. The molecular background of JEB is highly variable and most likely represents a collection of different diseases. The separation of the skin layers with blister formation occurs in the lamina lucida. The responsible mutations have been assigned to the genes coding for the laminin 5 subunits, collagen XVII, and α6 and β4 integrin. DEB is associated with mutations in the gene coding for collagen type VII (COL7A1), which is a protein that anchors the lamina densa within the superficial dermis.

Based on the clinical features of blisters and scarring associated with minor trauma of the skin, oropharynx, and esophagus.

In general, patients are very sensitive to touch because frictional or shearing forces damage their skin and lead to blistering and scarring. These blisters can be very painful (and sometimes itchy) and often are present at birth or shortly thereafter. Application of direct pressure (without shearing forces), such as related to blood pressure measurement, is not as damaging. Affected patients may present with severe syndactyly of their fingers and toes (so-called “pseudosyndactyly” or “mitten deformity”) and contractures of their limbs caused by scarring as a consequence of the disease. Depending on the type of epidermolysis bullosa, onychodystrophy ...

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