Herlitz junctional epidermolysis bullosa, LAMA3-related

What is Herlitz Junctional Epidermolysis Bullosa, LAMA3-related?

Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited disease that causes severe blistering on the skin. Infants with H-JEB frequently also have internal blistering on the lining of the nose, mouth, esophagus, trachea, rectum, stomach, intestines, and eyes. These symptoms are present from birth. Occasionally people with the disease survive into their teens, however 87% die in the first year of life.

People with H-JEB lack anchors to hold the layers of their skin together. They develop large, fluid-filled blisters in response to any trauma, even something as minor as increased room temperature. Skin chafes and wears away, leaving the person open to infection.

Granulation tissue, a kind of soft, pink, bumpy, moist skin, is often seen around the nose, mouth, ears, fingers, and toes, as well as in areas that receive friction, such as the buttocks and back of the head. This tissue bleeds easily and can be a site of fluid loss.

Infants and children with the disease often develop a hoarse cry, cough, and other breathing problems. They are prone to developing fevers, often lose their fingernails and toenails, and have poorly-formed tooth enamel. They may also have abnormalities in their urinary tract and bladder which can lead to urinary tract infections and kidney failure.

These infants do not grow at the expected rate and may also develop electrolyte imbalances, hair loss, osteoporosis, and skin cancer.

How common is Herlitz Junctional Epidermolysis Bullosa, LAMA3-related?

H-JEB is extremely rare. Estimates indicate that 0.37 people per million are affected by the disease and 1 in 781 Americans is a carrier.

How is Herlitz Junctional Epidermolysis Bullosa, LAMA3-related treated?

Even with the best of care, H-JEB is ultimately fatal. There are no successful treatments other than to protect the child as much as possible from skin damage and treat symptoms as they arise. A cesarean section may be recommended to protect the child from the skin trauma of birth.

Open wounds and blistered skin is often covered with multiple layers of non-adhesive bandages and anyone handling the child must use extreme care. The child must avoid any movement or clothing that could damage the skin.

Antibiotics are often prescribed for infection and antiseptics used to prevent infection. A dietitian should be consulted for an infant’s proper nutrition. People with H-JEB should drink plenty of fluids to avoid dehydration.

To aid in breathing, an opening may be made in the neck to deliver air to the trachea, however this may be difficult on a person with fragile skin.

What is the prognosis for a person with Herlitz Junctional Epidermolysis Bullosa, LAMA3-related?

The prognosis for a person with H-JEB is poor. Roughly 87% will die within the first year of life, and all will die by the late teens. The disease is extremely painful. Causes of death often include infection, breathing problems, and loss of fluid leading to dehydration.