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Epidermolytic Hyperkeratosis
1
Epidermolytic
Hyperkeratosis
Hannah Hedrick
Introduction about Epidermolytic Hyperkeratosis
Introduction
EH begins to appear at birth where the skin starts to become red, thick, and gets blisters all over the skin. The thickening of the skin can get worse as months go by. It affects the integumentary system in different areas of the skin.
Cause of the Disease
Though it is not known what the cause really is, it is said that the KRT1 gene mutations are associated with the PS-type epidermal hyperkeratosis, and KRT10 gene mutations are usually associated with NPS-type.
The Prevalence of the Disease
EH approximately affects 1 in 200,000 to 300,000 people worldwide.
The Range of the Disease
When people get EH, you usually can only get it genetically so it is not something that you can typically pass on to somebody with physical contact. It is a genetic condition that happens at birth.
The Severity of the Disease
Usually you can have a full normal life expectancy even though you still suffer with severe symptoms. If there is any death chance at all, it is most likely only gonna happen during infancy years.
Interesting facts about EH
At the junction between the human body and environmental conditions, the epidermis can play a protective role. It carries out this role by forming a massive cytoskeletal structure formed by 10 nm keratin flilaments.
Background information/history
Background Information
It started to be recognized prior to around 1962 and no famous people have been known to have EH.
Immunological Response
When people with the disease get older, the blisters become less frequent, erythroderma becomes less evident, and the skin becomes thick, especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. The thick skin usually becomes darker and the bacteria grows causing a distinct odor.
How long does it take for the immune system to respond?
It begins to respond at birth.
Typical Symptoms
Treatment
- Abnormal blistering of the skin
- Congenital bullous ichthyosiform erythroderma
- Erythroderma
- Poor appetite
- Weight loss
Prevention of Disease
There really is no prevention of the disease because the disease is genetic.
Medical Treatment
The medications that help to remove the excess thickened skin layers (topical keratolytics or oral retinoids) often remove too much scale, leaving a very fragile epidermis (underlying living cell layers) exposed. Severe palmoplantar keratoderma is very difficult to treat.
Conclusion
The most interesting thing I learned about Epidermolytic Hyperkeratosis is that its not a very common disease to get because of the fact of it being something that just gets passed down.
Citations
- Epidermolytic ichthyosis. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/1039/epidermolytic-ichthyosis
- Epidermolytic hyperkeratosis - Genetics Home Reference - NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis
- (n.d.). Retrieved from https://www.omim.org/entry/113800
- Rout, D. P., Nair, A., Gupta, A., & Kumar, P. (2019, May 8). [Full text] Epidermolytic hyperkeratosis: clinical update: CCID. Retrieved from https://www.dovepress.com/epidermolytic-hyperkeratosis-clinical-update-peer-reviewed-fulltext-article-CCID
- Epidermolytic Ichthyosis. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/epidermolytic-ichthyosis/