Epidermolysis bullosa, non-scarring

Published on 11/06/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

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Epidermolysis bullosa simplex, Weber-Cockayne type.

Epidermolysis bullosa simplex, Koebner type. Discrete blisters on a toddler’s foot.

Epidermolysis bullosa simplex, Dowling-Meara type. Grouped blisters on the leg of a child.

Epidermolysis bullosa simplex, Dowling-Meara type. Grouped blisters on the arm of a child.

CLINICAL FEATURES

Epidermolysis bullosa simplex (EBS) is characterized by blister formation within the epidermis, most commonly in the basal layer, and in rarer forms in the suprabasillar layer. There are mutations in six different genes that cause EBS. These are keratin 5, keratin 14, plectin, a6b4 integrin, plakophillin and desmoplakin. A new form of EBS caused by mutations in the dystonin gene has recently been described. The defects in the most common types of EBS are in keratins 5 or 14. There are multiple other rare variants.

The most common form of EBS is localized to the hands and feet (EBS-localized). It was formerly named EBS-Weber-Cockayne. In EBS-localized, blisters usually are not present at birth and first occur in late childhood or early adolescence. Blisters of the hands and feet develop after minor frictional trauma. Frequent superinfection of blisters on the feet occurs. It often has its onset and is most symptomatic in warm weather.

EBS may also be generalized There are two major forms of generalized EBS. These are EBS-generalized other (formerly EBS-Koebner) and EBS-Dowling-Meara. In EBS-generalized other blisters present at birth or in the neonatal period. The lesions are more numerous on the distal extremities, but may also be seen on the elbows and knees. In EBS-generalized other the lesions are discrete.

EBS-Dowling-Meara is characterized by grouped blisters resembling herpes simplex. During infancy, blistering may be severe and extensive, may involve mucous membranes and may result in shedding of nails, formation of milia and mild pigmentary changes without scarring.

TREATMENT

Treatment is symptomatic and supportive. Drain blisters with a sterile needle or blade. Do not remove the blister roof. If the blister roof is gone, apply Vaseline and a non-stick bandage. Secure the bandage with kerlex and netting. Avoid strenuous activity in warm weather. Antibiotics may be necessary if the blisters become infected.