Epidermolysis Bullosa, Symptoms, Diagnosis and Treatment
Propane or EB disease is a group of rare diseases that affect the skin tissue. It usually occurs in infants and is a hereditary illness. Some signs and symptoms may occur in adolescence. Epidermolysis bullole currently has no cure, though some of its mild types may disappear as the age rises.
Signs and symptoms of biological epidermolysis vary depending on the type. They include:
Scratched and bloody skin, especially in the hands and feet
Blistering the skin around the mouth and nose
Nails that are thick or not shaped
Wound inside the mouth and throat
Thickening and rashes of the palms of the hands and feet
Skin scarring, scarring and hair loss (alopecia scarring)
Thinning of the skin (atrophic wound)
Dental problems such as dental caries from enamel
Difficulty in swallowing (dysphagia)
Burning and painful skin
In some cases tearing the skin
Painful urine caused by weakness of the urinary tract
All types of EB disease
1- EB is simple
The most common type of EB starts with blisters in the palms of the baby's thighs, which appear only in the outer skin.
In this type of disease, the blisters are created both in the outer layers and in the inner layers.
About 10% of the disease is affected by the disease. This type of disease is more painful than two types of illness.
EB is created by defective genes that may be inherited. If EB is inherited, a parent with a defective gene transfers them to their child.
For the JEB type to pass, both parents must have a faulty gene. For all other types, only one parent should have it.
A mutation may occur in the creatine or collagen genes.
Diagnosis of parasite disease
In most cases, the disease is diagnosed in infants. Except in rare cases, it is difficult to diagnose.
Diagnostic tests may include biopsy, where a small sample of damaged skin tissue is analyzed. After a biopsy, they use a high-power electron microscope where protein changes in the skin tissue are easily detectable.
2. Blood test
Blood sampling from the patient and perhaps parents can also detect the disease.
3. Diagnosis during pregnancy
Blood tests can be done from the 7th week of pregnancy. Amniocentesis involves examining the amount of amniotic fluid that surrounds the embryo.