Other names: DEB; Dystrophic Epidermolysis Bullosa; JEB; Junctional Epidermolysis Bullosa
Epidermolysis bullosa is a rare group of genetic skin disorders characterized by painful, fragile and blistering skin.
There are four main types of epidermolysis bullosa:
Epidermolysis bullosa simplex (EBS)
EBS is the most common type of epidermolysis bullosa accounting for 70% of all cases. EBS ranges in severity from mild to severe and mainly affects the outer layer of skin on the palms and feet. The blisters heal without scarring.
Dystrophic epidermolysis bullosa (DEB)
DEB is the second most common type of epidermolysis bullosa accounting for 25% of all cases. DEB ranges in severity from mild to severe is caused by is one or more mutations in the COL7A1 gene, resulting in the lack of production of functional type VII collagen (COL7) protein. The COL7 protein forms anchoring fibrils necessary to bind the dermis (inner layer of the skin) to the epidermis (outer layer of the skin). When there are no anchoring fibrils, the skin becomes extremely fragile, with minor friction or trauma causing blisters and tears. Areas of the body primarily affected include the hands, feet, knees, and elbows.
Symptoms of dystrophic epidermolysis bullosa include open wounds, which lead to recurrent skin infections and fibrosis that can cause fusion of fingers and toes, and an increased risk of developing an aggressive form of skin cancer.
Vyjuvek (beremagene geperpavec-svdt) is a topical gene treatment used for the treatment of dystrophic epidermolysis bullosa. It works to treat DEB by restoring functional copies of the COL7A1 gene to express COL7, which then reassembles the anchoring fibrils that bind the dermis to the epidermis.
Junctional epidermolysis bullosa (JEB)
JEB is a less common type of epidermolysis bullosa accounting for 5% of all cases. There are two main subtypes of JEB: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB).
JEB generalized severe is the more severe subtype affecting individuals from birth or early infancy and characterized by blistering over large regions of the body and mucous membranes. JEB generalized intermediate is the milder subtype with blistering limited to the hands, feet, knees, and elbows. It often improves after the newborn period.
Kindler epidermolysis bullosa (KEB)
KEB is a very rare form of epidermolysis bullosa that affects multiple layers of the skin. KEB is caused by mutations in FERMT1, which encodes kindlin-1.
Drugs used to treat Epidermolysis Bullosa
The medications listed below are related to or used in the treatment of this condition.
For ratings, users were asked how effective they found the medicine while considering positive/adverse effects and ease of use (1 = not effective, 10 = most effective).
Activity
Activity is based on recent site visitor activity relative to other medications in the list.
Rx
Prescription only.
OTC
Over-the-counter.
Rx/OTC
Prescription or Over-the-counter.
Off-label
This medication may not be approved by the FDA for the treatment of this condition.
EUA
An Emergency Use Authorization (EUA) allows the FDA to authorize unapproved medical products or unapproved uses of approved medical products to be used in a declared public health emergency when there are no adequate, approved, and available alternatives.
Expanded Access
Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Pregnancy Category
A
Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk in later trimesters).
B
Animal reproduction studies have failed to demonstrate a risk to the fetus and there are no adequate and well-controlled studies in pregnant women.
C
Animal reproduction studies have shown an adverse effect on the fetus and there are no adequate and well-controlled studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
D
There is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience or studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
X
Studies in animals or humans have demonstrated fetal abnormalities and/or there is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience, and the risks involved in use in pregnant women clearly outweigh potential benefits.
N
FDA has not classified the drug.
Controlled Substances Act (CSA) Schedule
M
The drug has multiple schedules. The schedule may depend on the exact dosage form or strength of the medication.
U
CSA Schedule is unknown.
N
Is not subject to the Controlled Substances Act.
1
Has a high potential for abuse. Has no currently accepted medical use in treatment in the United States. There is a lack of accepted safety for use under medical supervision.
2
Has a high potential for abuse. Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. Abuse may lead to severe psychological or physical dependence.
3
Has a potential for abuse less than those in schedules 1 and 2. Has a currently accepted medical use in treatment in the United States. Abuse may lead to moderate or low physical dependence or high psychological dependence.
4
Has a low potential for abuse relative to those in schedule 3. It has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 3.
5
Has a low potential for abuse relative to those in schedule 4. Has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 4.
Alcohol
X
Interacts with Alcohol.
Further information
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
