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Gunther's Disease
Transcript
Gunther's Disease
How do you inherit
Gunther's Disease?
- Gunther's diesease has an autosomal recessive pattern, which means both parents must have the affected gene for it to be possible to inherit the disease, the offspring must have both affected genes to get the disease.
- Gunther's diesease is extremly rare, fewer than 200 cases have been reported worldwide, and the odds are 1 in 1,000,000 births.
a congenital form of erythropoietic porphyria.
What are the symptoms?
- Causes the skin to be overly sensitive to sunlight. Any areas that are exposed cause severe blistering, infections, scarring, changes in pigmentation, and increased hair growth.
- The infections can sometimes cause lost of facial features and fingers.
- Low red blood cell count
- Deposition of red-brown pigments in the bones and teeth
- Life expextancy is 40-60 years.
- Symptoms usually begin to show soon after birth to early childhood.
How does it affect the individual and their Family?
- Blistering on areas exposed to sunlight can be very painful.
- Gunther's Disease is sometimes also linked with being a vampire because of the many parallels.
- To avoid sunlight, sufferers may only go out at night or must wear very densely woven materials, gloves and hats.
- Sufferers may have personality changes.
References
What treatments options are available?
- http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx
- http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002188/
- http://emedicine.medscape.com/article/1103274-clinical#a0217
- http://www.mealldubh.org/genetics/congenital-erythropoietic-porphyria.htm
- http://medchrome.com/supernatural/porphyria-a-true-story-of-vampire/
- https://rarediseasesnetwork.epi.usf.edu/porphyrias/patients/CEP/
- Bone marrow transplants have been successful in a few sufferers, but long term results are still unknown
- Avoidance of sunlight by either staying inside or wearing a protective suit.
- Vitamin and mineral supplements, like vitamin D and Beta-Carotene should be taken.
- Gene therapy may be an option in the future.
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