NOTES: https://www.medicinecanbeeasy.....com/xeroderma-pigmen

In this video, I am going to talk about the disease xeroderma pigmentosum, its symptoms, and the genetics behind it.

Perfect for life-science students, medical students or anyone interested!

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Disclaimer: This video is intended for educational purposes only and does not in any way constitute medical advice. If you suffer from a medical condition, you must seek a physician. This video does not in any way substitute medical diagnosis, treatment, and any other medical procedures provided by a qualified healthcare provider.

This video talks about Nucleotide excision repair (NER) which is a DNA repair mechanism. Cells use nucleotide excision repair to fix DNA regions containing chemically modified bases, often called chemical adducts, that distort the normal shape of DNA locally . Mutation in XP family genes leads to defect in nucleotide excision repair and are involved in Xeroderma pigmentosum (XP) . Nucleotide excision repair is a well conserved DNA repair mechanism which is transcription coupled.



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Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. “Xero” means dry, “derma” means skin, pigmentosum means pigment. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.

Disclaimer: All the information provided by Medical Education for Visual Learners and associated videos are strictly for informational purposes only. It is not intended as a substitute for medical advice from your health care provider or physician. It should not be used to overrule the advice of a qualified healthcare provider, nor to provide advice for emergency medical treatment. If you think that you or someone that you know may be suffering from a medical condition, then please consult your physician or seek immediate medical attention.



Chapter:
00:00 Introduction of Xeroderma pigmentosum
00:55 Causes of Xeroderma pigmentosum
01:39 Who prone to Xeroderma pigmentosum
02:14 Stages and symptoms of xeroderma pigmentosum
03:50 How is xeroderma pigmentosum diagnosed?
04:17 Treatment for Xeroderma pigmentosum
04:49 Prognose of Xeroderma pigmentosum
05:47 Xeroderma pigmentosum documentary 1
06:35 Xeroderma pigmentosum documentary 2
07:16 Xeroderma pigmentosum documentary 3

Xeroderma pigmentosum was first described in 1874 by Hebra and Moritz Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin.

Xeroderma pigmentosum documentary full version links:

The Others (2001) - Xeroderma Pigmentosum: What Is It? - Featurette
https://www.youtube.com/watch?v=IfplLeV-LsQ

We Have 'Vampire Disease'. What is xeroderma pigmentosum, or XP? | Short Doc
https://www.youtube.com/watch?v=4BjWhbzj1YU

Children of the Night
https://www.youtube.com/watch?v=ccdR-Gi3_Xc

Jax's Story | Xeroderma Pigmentosum | Sun Control of Minnesota
https://www.youtube.com/watch?v=oDzHxrTarXA

Allergic to the Sun (Xeroderma Pigmentosum)
https://www.youtube.com/watch?v=oqtIxhSBKq8

Causes of Xeroderma pigmentosum

The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage.

Who is prone to Xeroderma pigmentosum

The disease affects about 1 in 100000 worldwide. By region, it affects about 1 in 370 in India,1 in 20000 in Japan, 1 in 250000 people in the United States, and 1 in 430000 in Europe, It occurs equally common in males and females.

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Background music credit: Storyblocks
Video credit: Storyblocks, youtube
Pictures attribution: google, Cover background DNA HELIX picture designed by Freepik

Xeroderma pigmentosum is a genetic defect caused by a mutation in nucleotide excision repair, which is the DNA repair process used to remove thymine dimers caused by UV light exposure. Thymine dimers are large, bulky lesions, and their presence leads to distortions in the DNA helix. These thymine dimers then may interfere with normal replication, leading to DNA damage in xeroderma pigmentosum patients. The clinical presentation includes extreme sensitivity to sunlight, increased risk for skin cancers, and the development of corneal ulcers. Since there is no definitive treatment, patients with xeroderma pigmentosum simply have to avoid exposure to UV light.

Learn about xeroderma pigmentosum and other biochem topics with Pixorize's USMLE mnemonics. Part of our DNA repair playlist for the USMLE Step 1 exam.

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Xeroderma pigmentosum, or XP, is a rare hereditary disease where patients are unable to repair the cellular damage caused by ultraviolet light.

To learn more about XP and DNA repair go to https://www.clinuvel.com/

#skincancer
#xerodermapigmentosum
#raredisease
#DNAdamage
#DNArepair

Everyone has some sensitivity to sunlight. It's the reason we tan or sunburn, get sun freckles, or even skin cancers. But when this sensitivity turns extreme, xeroderma pigmentosum (XP), a rare skin disease, may be the culprit.

The outdoors can be catastrophic to those with XP. People with this condition need to be covered from head to toe, and even the simplest slip of a sweatshirt cuff could prove dangerous.

Because the body cannot protect itself from UV light, a person’s risk of getting skin cancer skyrockets. It’s estimated that XP can raise the risk of getting skin cancer 10,000-fold. Most children with XP are diagnosed with skin cancer before they reach 10 years old.

This is Jax's story.

Take a look at how we partnered with 3M to provide the ultimate piece of mind for this amazing family.

To learn more about XP, please visit:
https://rarediseases.org/rare-....diseases/xeroderma-p

Xeroderma Pigmentosum (XP) is a rare hereditary skin condition. It is the body’s extreme sensitivity to ultraviolet (UV) light due to the damage in the DNA repair mechanism. In this video, we will discuss what XP is, the DNA mechanism that causes XP, ongoing research to find a cure, as well as diagnosis, symptoms and disease management.

This video was made by McMaster students Mark Bertone, Jasmine Leung, Teja Koi and Maha Arif, in collaboration with the McMaster Demystifying Medicine Program.

Copyright McMaster University 2021.

References:
Alessi, S. S., Sanches, J. A., Oliveira, W. R. D., Messina, M. C., Pimentel, E. R. D. A., & Festa Neto, C. (2009). Treatment of cutaneous tumors with topical 5% imiquimod cream. Clinics,​ ​64​(10), 961-966.
American Society of Clinical Oncology (ASCO). (2020, April 30). Xeroderma Pigmentosum. Retrieved from
https://www.cancer.net/cancer-....types/xeroderma-pigm
Black, J. O. (2016). Xeroderma pigmentosum. Head and neck pathology, 10(2), 139-144.
Cleaver J. E. (2008). Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous Diseases. ​Current medical literature. Dermatology,​ ​13​(2), 41–48.
DiGiovanna, J. J., & Kraemer, K. H. (2012). Shining a light on xeroderma pigmentosum. Journal of investigative dermatology​, 132(3), 785-796

Kemp, M. G., & Sancar, A. (2012). DNA excision repair: where do all the dimers go?. ​Cell Cycle​, ​11​(16), 2997-3002.
Lin, P., & English, J. C. (2004). Topical Treatment of Xeroderma Pigmentosum. ​P AND T,​ ​29​, 512-514.
Mareddy, S., Reddy, J., Babu, S., & Balan, P. (2013). Xeroderma pigmentosum: man deprived of his right to light. ​TheScientificWorldJournal​, ​2013​, 534752. https://doi.org/10.1155/2013/534752
Mullenders, L. H., Stary, A., & Sarasin, A. (2001). Atlas of Genetics and Cytogenetics in Oncology and Haematology. Retrieved from http://atlasgeneticsoncology.o....rg/Deep/ExcisRepairI
National Organization for Rare Disorders (NORD). (2017, August 04). Xeroderma Pigmentosum. Retrieved from
https://rarediseases.org/rare-....diseases/xeroderma-p

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