Epidermolysis Bullosa (EB) is a family of life-threatening rare genetic disorders that affect the body’s largest organ: the skin.

Individuals with EB lack critical proteins that bind the skin’s two layers together. Without these proteins, the skin tears apart, blisters, and shears off leading to severe pain, disfigurement, and wounds that may never heal.

EB is a family of genetic disorders

EB is not specific to any ethnicity or gender

EB is not contagious

EB is a chronic disease

EB is estimated to affect 500,000 people worldwide

EB SUBTYPES

There are 4 major subtypes of EB. Click to learn more about each subtype below.

EB Simplex (EBS)

Junctional EB (JEB)

Dystrophic EB (DEB)

Kindler Syndrome

HEREDITY OF EB

Genetic disorders, like EB, are usually passed down from parents to offspring, although they are rarely caused by a spontaneous DNA mutation. EBS and DDEB are passed down through dominant inheritance. This means only one copy of the mutated gene, from either the mother or father, is needed for a child to express the disorder. RDEB, JEB, and Kindler Syndrome are all passed down through recessive inheritance. This means that a child needs to get 2 copies of the mutated gene, one from each parent, to express the disease. Children can also be carriers of the gene, which means they’re able to pass it down to their children, but do not express the disorder.

SOURCES

“Epidermolysis Bullosa Simplex – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2018
ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex

“Junctional Epidermolysis Bullosa – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2018
ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa

“Dystrophic Epidermolysis Bullosa – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2018
ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa

“Kindler Syndrome – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2018
ghr.nlm.nih.gov/condition/kindler-syndrome

“Dominant Dystrophic Epidermolysis Bullosa.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services
rarediseases.info.nih.gov/diseases/2139/dominant-dystrophic-epidermolysis-bullosa

Yancey, Kim B., and Helmut Hintner. “Non-herlitz junctional epidermolysis bullosa.” Dermatologic clinics 28.1 (2010): 67-77.