EPIDERMOLYSIS BULLOSA PRURIGINOSA
About Epidermolysis Bullosa Pruriginosa
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
The exact prevalence of EB pruriginosa is unknown. Approximately only a few hundred cases have been reported to date.
The symptoms of EB pruriginosa are present from shortly after birth to early adulthood.
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.
EB pruriginosa has been found to inherit in both autosomal dominant and autosomal recessive pattern.
- 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.