EPIDERMOLYSIS BULLOSA PRURIGINOSA

The cover of 'Rare Disease Series #12 EPIDERMOLYSIS BULLOSA PRURIGINOSA'

About Epidermolysis Bullosa Pruriginosa

The COL7A1 gene is divided into various sections. The gene codes for type VII collagen, which is a major structural component of the anchoring fibrils at the dermo-epidermal junction of our skin
EPIDERMOLYSIS BULLOSA PRURIGINOSA (EB PRURIGINOSA) is a rare disease derived from the defected COL7A1 gene. The gene codes type VII collagen, which is a major structural component of the anchoring fibrils at the dermo-epidermal junction of our skin.

Prevalence / Onset

Map background with the silhouette of a baby to early adulthood with words saying "Approximately only a few hundred cases have been reported to date.

Prevalence

The exact prevalence of EB pruriginosa is unknown. Approximately only a few hundred cases have been reported to date.

Onset

The symptoms of EB pruriginosa are present from shortly after birth to early adulthood.

Symptoms

Two symptoms of Epidermolysis bullosa pruriginosa: Pruitic papules, nodules, and plaques, Naildystrophy

Diagnosis

The diagnosis of EB pruriginosa can be made by observing clinical findings and evidence of inheritance within the patient's family.

Skin biopsies for light microscopy and electron microscopy can help the diagnosis. Genetic testing is also often used to confirm mutations in the COL7A1 gene.

Inheritance Pattern

Two family trees showing both possible patterns: Autosomal dominant pattern and Autosomal recessive pattern
EB pruriginosa has been found to inherit in both autosomal dominant and autosomal recessive pattern.

Treatments

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  2. The use of topical steroids under occlusion is the most frequently used treatment.

There are other methods, including tacrolimus ointment, compression stockings, and more.

However, no lasting effects have been reported.

Helpful communities for Epidermolysis Bullosa Pruriginosa

Currently, no specific support groups are available. Visit the below websites to learn more about various support groups.

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