Epidermolysis Bullosa

Rarely occurring epidermolysis bullosa is characterized by brittle, blistering skin. Blisters may develop in reaction to a small wound, like one caused by heat, rubbing, or itching. Blisters may develop internally under extreme circumstances, such as on the stomach or mouth lining.

Inheritable epidermolysis bullosa often manifests in babies or young children. For other people, symptoms don't appear until they are teenagers or early adults.

While epidermolysis bullosa has no known treatment, milder cases may become better with age. Blisters are cared for during treatment, and new ones are avoided.

Epidermolysis Bullosa: Causes

The gene responsible for epidermolysis bullosa is inherited. Autosomal dominant inheritance means that you can either get the disease from one parent who has it or from both parents (autosomal recessive inheritance).

An underlying layer (dermis) and an outer layer (epidermis) make up the skin (dermis). The basement membrane is the region where the layers converge. Which layers split and develop blisters primarily distinguishes the different kinds of epidermolysis bullosa. The skin damage might have been caused by a little bump, injury, or by nothing at all.

The following epidermolysis bullosa subtypes −

• Simplex bullosa epidermolysis. The most typical kind is this. It appears in the top layer of the skin and is triggered by heat and friction. The palms and feet are primarily affected. Blisters heal without leaving scars.

• Bullosa junctional epidermolysis. Blisters start appearing in infants with this kind, which may be severe. The vocal cords of a newborn with this illness may continuously blister and scar, giving rise to a hoarse-sounding cry.

• Bullous dystrophic epidermolysis. This kind is linked to a gene defect that contributes to the production of a protein that holds the skin layers together. The skin's layers won't adhere together adequately if this protein is absent or not working properly. Skin that seems thin may result from it. In addition to making it difficult to eat, ill mucous membranes might make you constipated.

• Kindler disease. Although it frequently results in numerous layers of blisters, this variety can vary greatly from person to person in appearance. The blisters typically appear in early childhood or infancy. It makes skin appear thin, mottled, and wrinkled and makes it more sensitive to the sun.

The fact that epidermolysis bullosa acquisita is uncommon in children and is not hereditary sets it apart from these disorders.

Epidermolysis Bullosa: Symptoms

The patient with epidermolysis bullosa mainly presents with the following symptoms that include −

• Fragile skin that is prone to blisters, particularly on the hands and feet

• Unformed or thickened nails

• Internal mouth and throat blisters

• Hair loss and burning on the scalp (scarring alopecia)

• Thin-looking skin

• Tiny, acne-like pimples (milia)

• Dental issues like tooth rotting

• Having trouble swallowing

• Painful and itchy skin

Blisters from epidermolysis bullosa are typically first noted in infants. Yet they frequently manifest when a toddler first starts to walk or when an older youngster starts new activities that put extra strain on their feet.

Epidermolysis Bullosa: Risk Factors

A family history of epidermolysis bullosa is the main risk factor for acquiring the condition.

Epidermolysis Bullosa: Diagnosis

The diagnosis of the epidermolysis bullosa is mainly done based on history and some of the tests may be required for confirmation and to rule out underlying causes −

• Immunofluorescence mapping through biopsy. This method involves taking a little sample of the afflicted skin or mucous membrane and examining it under a specialized microscope. It determines the layers of skin involved by using reflected light. The presence and health of the proteins required for skin development are also determined by this test.

• Genetic analysis. Your doctor performs this test by taking a tiny sample of blood and sending it to a lab for DNA analysis.

• Prenatal examination. Families that have a history of epidermolysis bullosa might wish to think about genetic counseling and prenatal testing.

Epidermolysis Bullosa: Treatment

The treatment is based on the severity of the symptoms. Your doctor may advise conservative or surgical treatment.

Conservative Treatment

Medications − Drugs can aid with the management of itch and discomfort. If there are symptoms of a broad illness, such as a temperature and weakness, your doctor may additionally recommend medications to combat infection (oral antibiotics).

Surgical Treatment

Surgical treatment may be required in severe cases which include −

• The esophagus becomes wider. The esophagus, a long, hollow tube that connects the throat to the stomach, can become narrowed by blistering and scarring. This makes eating challenging. Food may go to the stomach more easily if the tube is made wider surgically.

• Installation of a feeding tube. A feeding tube (gastrostomy tube), which delivers food straight to the stomach, may be required to increase nutrition and aid with weight growth.

• Skin grafting. A skin transplant may be recommended by the surgeon if scarring has compromised a hand's ability to function.

• Resuming motion. Frequent blistering and scarring can result in odd bending in the joints or the fusion of the fingers or toes (contractures). Surgery may be suggested by a surgeon to treat certain disorders.

Epidermolysis Bullosa: Prevention

Some of the measures that can help to prevent epidermolysis bullosa include −

• Treat your youngster with care. Be very gentle while snuggling your baby or little child. When picking up a kid who has epidermolysis bullosa, support the child's neck and buttocks with soft material. Never remove the kid from the child's arms.

• Pay close attention to the diaper region. If your child is wearing diapers, take the elastic bands off and steer clear of the cleansing wipes. Use a non-stick dressing to line the diaper or cover it with a thick coating of zinc oxide paste.

• Cool off the atmosphere in the house. Strive to maintain a constant temperature in your house.

• Keep the skin moisturized. Use moisturizer sparingly as required all day.

• Your youngster should wear soft clothing. Wear comfortable, easy-to-put-on apparel. To prevent scratching, it could be beneficial to remove labels and place garments on the seam side. Consider stitching foam padding into garment linings at pressure locations like the knees and elbows. Whenever possible, use soft special shoes.

• Stop scraping. Regularly trim your child's fingernails.

• Motivate your youngster to exercise. Encourage activities that lower the chance of skin damage as your kid matures. One alternative is to swim. When engaging in outdoor activities, children with mild types of epidermolysis bullosa can protect their skin by using long sleeves and pants.

• Shield abrasive surfaces. Think about using wool, foam, or a substantial towel to cushion a vehicle seat or bathtub. The cushioning may be covered with a soft layer of cotton or silk.

Conclusion

A set of uncommon illnesses known as epidermolysis bullosa make the skin brittle and prone to blistering. When anything scrapes or bumps the skin, it might tear, hurt, or develop blisters. On the body, they can occur everywhere.