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Epidermolysis bullosa pruriginosa

Case synopsis

Case synopsis

Female, 46 year old presented by severely itchy lichenified papules& plaques, with bullous eruption on top some of them.

*Sites (both lower extremities)

*onset of lesions started  at early childhood

Diagnosis

Diagnosis

Dystrophic epidermolysis bullosa pruriginosa .

Dystrophic epidermolysis bullosa pruriginosa is a rare & distinct subtype of dystrophic epidermolysis bullosa (DEB).

Epidermolysis Bullosa (EB) is a heterogenous group of inherited mechanobullous disorders, characterized by fragility and trauma-induced blisters.

EB pruriginosa caused by mutation in gene COL7A1 which encodes for the anchoring fibril protein type VII collagen.

EB pruriginosausually inherited as an autosomal dominant, autosomal recessive or sporadic.

EB pruriginosa can either present shortly after birth, or in early adulthood.

EB pruriginosa  characterized by milia, excoriations, skin fragility, nail dystrophy, intense pruritus, lichenified plaques, albopapuloid lesions, violaceous linear scarring, and nodular prurigolike lesions

Intense pruritus has been reported to accompany or predate the cutaneous manifestations by several years.

It has been suggested that the hypertrophic, lichenified, nodular prurigo-like plaques seen in the disease are secondary to chronic scratching.

Dermatopathology textbooks include hereditary forms of EB among the “cell-poor” list of subepidermal blistering disorders.

Treatment

Treatment

** The aims  of treatment are :

1- Reducing pruritus

2- Preventing scarring

3- Improving the patient’s quality of life.

** The most frequently used treatments for EBP are potent topical steroids under occlusion, or intralesional steroids

** Other therapies include:

Topical tacrolimus,cryotherapy, UV-B ,dapsone, cyclosporine, thalidomide, and etretinate.