Epidermolysis bullosa is a rare genetic disorder that causes fragile, blistering skin. The blisters appear in response to any injury, heat, rubbing, or scratching. In very severe cases, blisters may develop inside the body, including the lining of the mouth or stomach. It is an inherited condition, and it typically shows up in infants or young children. However, few people do not show any symptoms until they are teens or young adults. This skin condition has no complete cure, but mild forms may show improvement with age. The goal of treatment is to provide care for blisters and avert new ones.
Also Read: Chilblains: Causes, Symptoms And Treatment
Symptoms
Common signs and symptoms of Epidermolysis bullosa include:
- Fragile skin that is prone to blisters on the palms and feet
- Nails that are thick
- Blisters inside the mouth and throat
- Scalp blistering and hair loss
- Tiny pimple-like bumps
- Dental problems
- Difficulty swallowing
- Itchy, painful skin
The symptoms are generally noticed during infancy. However, it’s not uncommon for them to show up when a toddler starts to walk or when an older kid begins new activities that result in more friction on the soles of the feet.
Seek immediate medical help if the child has:
- Problems swallowing
- Show signs of infection like warm, painful swollen skin with pus or an odour from a sore or fever or chills
- Severe blisters can be fatal for infants.
Causes
This disorder is caused by an inherited gene, and one may inherit the disease gene if the condition runs in the family.
The skin comprises an outer layer (epidermis) and an underlying layer (dermis). The region where the layers meet is called the basement membrane. The types of epidermolysis bullosa are chiefly defined by which layers separate and form blisters. The skin injury may be caused by a minor injury, bump, or no specific reason.
Types Of Epidermolysis Bullosa
Epidermolysis Bullosa Simplex: It is the most common type that is caused by heat and friction and occurs in the outer layer of the skin. It chiefly affects the palms and feet, and the blisters heal without scarring.
Junctional Epidermolysis Bullosa: This is a severe form with blisters starting in infancy and the baby may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.
Dystrophic Epidermolysis Bullosa: It is related to a problem in the gene makeup that results in the production of a protein that glues the skin layers together. When the protein is missing or doesn’t function the layers of the skin wouldn’t join well, which makes the skin look thin. Also, the damaged mucous membranes can result in constipation and make it difficult to eat.
Kindler Syndrome: This type of epidermolysis bullosa cause blisters in several layers and it looks very different from person to person. The blisters usually show up in infancy or early childhood. Further, it increases sun sensitivity and makes the skin look, thin, mottled, and wrinkle.
Diagnosis
The doctor can identify epidermolysis bullosa from the skin’s appearance. Further, doctors may also recommend certain tests to confirm the diagnosis which includes:
Biopsy For Immunofluorescence Mapping: A sample of affected skin or mucous membrane is removed and examined with a special microscope. It also identifies whether the proteins required for skin growth are present and healthy.
Genetic Testing: A blood sample is tested for DNA analysis.
Prenatal Testing: Families with a history of Epidermolysis bullosa are tested for prenatal testing and genetic counselling.
Also Read: Skin Biopsy: Procedure, Risks And Results
Treatment
The main treatment for epidermolysis bullosa includes lifestyle modifications and home care. If these do not ease symptoms, then the doctor may suggest one or more of the following treatments.
Medications: Medications are prescribed to help ease pain and itching. Also, the doctor may prescribe drugs to fight infection, if there are signs of prevalent infection, like fever and weakness.
Surgery: Surgical procedure may be required to correct abnormalities.
Rehabilitation Therapy: Children with this condition may improve with rehabilitation therapy depending on their needs and how movement is restricted.
Prevention
Though it’s not possible to avert epidermolysis bullosa, these steps may help avert blisters and infection.
- Handle your child very gently and keep the child on soft material and give support under the buttocks and behind the neck region. Don’t lift the child from under the arms
- Take utmost care with the diaper area and avoid cleansing wipes
- Maintain the home environment cool and temperature constant
- Gently apply moisturizer as required throughout the day
- Use soft clothes for the child
- Motivate the child to be active to lessen the risk of skin injury. Swimming is an ideal option
