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GlossaryDystrophic Epidermolysis Bullosa

rare genetic disorder causing fragile, blistering skin from minor trauma

Dystrophic Epidermolysis Bullosa (DEB) is a rare genetic disorder characterized by extremely fragile skin that blisters and tears from minor friction or trauma. This condition is caused by mutations in the COL7A1 gene, which affects the production of type VII collagen, a protein essential for anchoring the layers of skin together.

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research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

A specific gene mutation causes a severe skin disorder in a family.

research LB918 Analysis of National Inpatient Sample to characterize admissions for pediatric patients with dystrophic epidermolysis bullosa

July 2024 in “Journal of Investigative Dermatology”

Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.

Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa

research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa

November 2022 in “Journal of Investigative Dermatology”

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

research Dominant dystrophic epidermolysis bullosa: Seven familial cases

February 2009 in “Journal of The American Academy of Dermatology”

The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.

Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation

research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

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