Overview Of Acantholysis Bullosa
Acantholysis Bullosa is a subtype of a group of skin disorders (the larger group is referred to as EB – Epidermolysis bullosa) characterized by blister formation after even minor injuries. The disorder is genetic, and can also include widespread skin erosions and severe dysfunctions of the skin’s ability to form an effective barrier.
Commonly Associated With
EB; Junctional epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome; Dystrophic epidermolysis bullosa; Epidermolysis bullosa simplex
Causes Of Acantholysis Bullosa
There are four main subtypes of EB:
- Junctional epidermolysis bullosa
- Epidermolysis bullosa simplex
- Dystrophic epidermolysis bullosa
- Hemidesmosomal epidermolysis bullosa
Another rarer variety of EB is named epidermolysis bullosa acquisita. This particular form develops after birth, and is autoimmune in nature, meaning that the immune system of the person attacks their own body.
EB can range in severity from minor to fatal. The minor form often causes blistering of the skin, and the severe form will affect other organs. It is often difficult to identify the exact variety of EB a person has, although now testing specific genetic markers helps narrow down the possibilities.
Family history is a very important risk factor for EB. Having parent with the same condition raisesthe risk for developing the disorder.
Symptoms Of Acantholysis Bullosa
Depending on the form of EB the person has, symptoms can include:
- Blisters around the nose and/or eyes
- Blistering of the skin present at birth
- Blisters in or around the throat and mouth, causing feeding problems or a swallowing difficulty
- Loss of nails or the development of deformed nails
- Tiny white bumps on skin that is recently injured
- Alopecia (hair loss)
- Dental problems, including tooth decay
- Blisters that occur on the skin after a minor injury or temperature change, especially on the feet
- An infant who cries with a very hoarse sound, a persistent cough, or other breathing problems
Exams and Tests
Your health care provider will look at your skin to diagnose EB.
Some tests that confirm the diagnosis include:
- Specific tests on skin samples under a microscope
- A skin biopsy
- Genetic testing
Skin tests are often used to try and identify the specific form of EB.
Other tests that can be performed include:
- An upper GI series test or an upper endoscopy if the symptoms include difficulties swallowing
- A culture test to check for a bacterial infection if skin wounds aren’t healing as expected
- A blood test to check for anemia
The rate of growth needs to be checked regularly if an infant is suspected of/does have a confirmed form of EB.
Treatment Of Acantholysis Bullosa
The goal of treatment for EB is to prevent skin blisters from forming and avoiding other complications. Additional treatments will depend on the severity of the condition.
Follow these recommended guidelines at home:
- The patient should follow a health care provider’s advice if blistered areas on the skin become raw or crusted. They may need to apply antibiotic ointments to wound areas, and they may also have need for regular whirlpool therapy, if applicable. Their health care provider will inform them if they need a dressing or bandage, and if so, what type to use.
- The patient should regularly perform exercises a physical therapist has taught them in order to help keep their muscles and joints mobile.
- Try to prevent skin infections by properly caring for the skin at all times.
- They may need to take oral steroid medications for short periods of time if they have difficulties swallowing. They may also need to take medication for a candida (yeast) infection in the throat or mouth if it occurs.
- The patient should be sure to eat a healthy diet. When they experience skin injuries of various types, they may need extra protein and calories to help their skin heal more efficiently. They should choose soft foods of various types, and they should avoid chips, nuts, and other crunchy foods if they have active sores in their mouth. A nutritionist can help them with their diet if necessary.
- The patient should be sure to take special care with their oral health and should schedule regular dental check-ups. Doctors will recommend that they see a dentist who has experience treating patients with EB.
Surgeries (if necessary) that can help treat EB can include:
- Removal of any areas of squamous cell carcinoma (a type of skin cancer) that can develop
- Repair of deformities created by the EB disorders, such as hand deformities
- Dilation (widening) of the esophagus if there is a narrowing that is preventing normal swallowing
- Skin grafting for deep sores, wherever they occur
Other treatments for EB can include:
- Gene and protein therapy, along with the use of the drug interferon (this approach is currently being studied for effectiveness)
- Medications that suppress the immune system help treat the autoimmune form of EB, although only that form.
The outlook for EB depends on the severity of the disorder. Mild forms of EB can improve as the person ages. However, very severe forms of EB have a high mortality rate.
Infection of the blistered areas of the skin is common, but is most often treatable.
In severe forms of EB, scarring after blisters form on the skin can cause:
- Fused fingers and/or toes on the hands and/or feet
- Difficulties swallowing if the esophagus or mouth are affected
- Limited mobility due to scarring of the skin
- Contracture deformities of various types. For example, at the elbows, fingers, or knees.
Possible Complications Of Acantholysis Bullosa
These complications can occur in some cases:
- Infections, which can include sepsis in severe cases (widespread bloodstream infection)
- Problems with the eyes, which can include blindness in severe cases
- Severe malnutrition in infants and children caused by feeding difficulties. This can lead to what is known as a “failure to thrive”
- A squamous cell form of skin cancer
- Muscular dystrophy
- Esophageal narrowing
- Periodontal disease
- A loss of function in the feet and/or hands
- A reduced life expectancy for patients with severe forms of EB
When to Contact a Medical Professional
If parents notice any sort of blistering in their infant’s skin shortly after birth, they should immediately contact their health care provider. If they have a family history of EB and plan to have children, they may want to have genetic counseling done beforehand.
Prevention Of Acantholysis Bullosa
As EB is a genetic disorder, medical professionals will recommend those with a family history of EB to seek out genetic counseling before they begin trying to have children.
During pregnancy, a test called chorionic villus sampling can test the fetus for EB. For couples at a high risk for having a child with EB, this test is possible as early as the 8 to 10-week mark of the pregnancy. Consult with a health care provider about this test.
To prevent skin damage in those with EB, it is recommended that they wear padding around injury-prone areas, such as the knees, elbows, buttocks, and ankles. They are also recommended to avoid contact sports altogether.
If the person has EB acquisita and is on steroids for longer than 1 month continuously, they may need vitamin D and calcium supplements. These supplements can help to prevent osteoporosis (thinning bones) if taken correctly.