What Your Test Results Mean:

Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of JEB for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Junctional epidermolysis bullosa, LAMA3-related (JEB) is an inherited condition in which a subunit of laminin-5 is defective. Laminin-5 is responsible for holding layers of skin together, and when it is non-functional, the skin is very fragile and blisters easily. Affected individuals have blistering over large areas of their bodies including the skin, the mouth, and the digestive tract beginning in birth or infancy. Individuals with JEB are very susceptible to infections as blisters scar and bleed profusely. They may also have difficulties with eating and digestion. Fused fingers and toes and joint deformities that restrict movement may also be present.

Prognosis:

Prognosis is poor as most affected individuals do not live longer than one year.

Treatment:

Treatment is symptomatic. Some treatment strategies include protecting the skin through bandaging, preventing and treating infections, and maintaining good nutrition and hydration.