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Choroba Eb
Choroba Eb: A Rare and Severe Genetic Disease
What is Choroba Eb?
Choroba Eb is a rare and severe genetic disorder that affects the skin, mucous membranes, and internal organs. It is caused by mutations in the KRT5 and KRT14 genes, which are responsible for producing the proteins keratin 5 and keratin 14.
Symptoms of Choroba Eb
The symptoms of Choroba Eb can vary depending on the severity of the mutations. Some common symptoms include:
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- Blistering of the skin and mucous membranes
- Skin erosions and ulcers
- Nail dystrophy
- Dental problems
- Eye problems
- Gastrointestinal problems
- Respiratory problems
Diagnosis of Choroba Eb
Choroba Eb is diagnosed based on a combination of physical examination, family history, and genetic testing. Genetic testing can confirm the diagnosis and identify the specific mutations responsible for the disorder.