A common complication of epidermolysis bullosa (EB), a chronic, rare genetic disease that affects children and causes the skin to frequently blister, is skin cancer.
Types:
- Dystrophic EB
- Hemidesmosomal EB
- Junctional EB
- Epidermolysis Bullosa Simplex
Causes:
Since EB is a connective tissue disorder governed by genetic factors, all forms of the disease are genetic (inherited), and having parents who have the condition is a risk factor for developing the condition.
Distribution:
Although the blisters can be found anywhere, they most often affect the extremities because of the involvement of the flexor sites.
The mouth, throat, and esophagus are the additional sites.
Signs and symptoms:
- On the skin, there are persistent blisters developing.
- Blisters can develop anywhere on the skin, though they tend to affect the extremities more frequently. Blisters can also affect the mucous membranes of the mouth, throat, and esophagus, which can make eating and swallowing difficult.
- These blisters can be triggered by even the slightest trauma, as well as by drastic temperature changes, such as exceptionally warm weather.
- Puberty, or the age of sexual development, can cause a rise in blisters.
- Because it is so delicate, skin is referred to as “fragile skin.”
- The skin on the soles and palms has thickened.
- A nail deformity that manifests as curved nails indicates that the nail bed is abnormal.
- The face develops what are known as “Milia,” or milky white spots.
- Scaling, post-inflammatory hypo- or hyperpigmented spots, and scaling are all visible on the skin’s surface.
- Patients with EB are more vulnerable to bacterial secondary infections of any kind.
- They are more likely to develop dental issues like simple tooth decay and Alopecia Areata patches.
- A hoarse cry, a cough, or trouble breathing are just a few respiratory symptoms that they might experience.
- They might develop joint contractures.
Diagnosis:
- Usually, clinical diagnoses are made by trained eyes.
- To verify the diagnosis, a biopsy might be needed.
- A genetic analysis and immunohistochemistry will help to confirm the type of EB and the course of the disease.
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Other blood tests required:
- Like CBC for anemia.
- If wounds are not healing properly, a bacterial infection test is conducted.
- It might be necessary to perform an upper endoscopy to look for any esophageal blisters.
Conventional treatment:
A) Primary care:
1) To treat the skin with care.
- to stop any blisters from getting infected again.
- For proper wound healing.
- to shield the skin from trauma or injury.
2) To advocate soft or semi-solid food in order to avoid sores developing in the esophagus and oral mucosa.
B) Secondary care:
- These patients need proper dental care, which includes routine dental visits.
- They require proper nutrition, especially if there are too many blisters. Additional calories and proteins may be required in order to recover more quickly.
- They might benefit from physical therapy to increase their joints’ full range of motion and stop contractures from forming.
- In the event of severe blisters, skin grafting may be necessary.
- They might necessitate managing the fluid and electrolyte imbalance.
C) Genetic counseling:
- With a 50% chance of passing the disease-causing mutation to each child, prospective parents with a family history of any form of EB are advised to seek genetic counseling.
- Prenatal testing: To test the fetus, chorionic villus sampling during pregnancy can be done between weeks 8 and 10.
D) Agents to avoid:
- to protect the skin from any kind of injury or infection.
- to stay away from attire that is ill-fitting or has a rough texture.
- Avoid physical endeavors that might harm your skin.
Homeopathic treatment:
We recommend homeopathy as supportive treatment in conjunction with conventional treatment for Epidermolysis Bullosa because it will have some supportive role to play and that must be investigated in every case.
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