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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OSMECON is Osmania Medical College’s flagship event which aims at inculcating a healthy and competitive atmosphere of learning and medicine through discussions and research. Designed as a special platform presented by Osmania Medical College to promote undergraduate talent, it instils scientific reasoning and reinforces the values of medical research.

OSMECON was started in 2010, as a small one day event. Since its inception, OSMECON has grown to be an undergraduate national conference showcasing the talent of bright and young medicos all over the country.

OSMECON 2018 was held on 10th, 11th and 12th of August 2018.

Case Presentation, an event under OSMECON, provides a unique opportunity to get ahead of the game by presenting a rare and interesting clerked case to the vast network of medical fraternity.

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Project title: New target discovery for tuberous sclerosis treatment

• Dr Amanda Almacellas Barbanoj, University College London (UCL)
• Supervisors: Assoc. Professor Gabriele Lignani (UCL), Dr Sila Ultanir (The Francis Crick Institute)

Read more about this project here: https://epilepsyresearch.org.u....k/research_portfolio