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About 2,168 results

ALLMedicine™ Xeroderma Pigmentosum Center

Research & Reviews  1,077 results

Ocular surface squamous neoplasia following keratoplasty in xeroderma pigmentosa: A ser...
https://doi.org/10.1080/02713683.2021.1921218
Current Eye Research; Vempuluru VS, Ganguly A et. al.

Apr 28th, 2021 - To describe the clinical features and management of post-keratoplasty ocular surface squamous neoplasia (pk-OSSN) in patients with xeroderma pigmentosum (XP). Retrospective case series of 7 patients with XP. The mean age at diagnosis of pk-OSSN wa...

Association of DNA repair gene XPC Ala499Val (rs2228000 C>T) and Lys939Gln (rs2228001 A...
https://doi.org/10.1002/jgm.3339
The Journal of Gene Medicine; Lakkireddy S, Aula S et. al.

Apr 8th, 2021 - Xeroderma pigmentosum complementation group C (XPC), a DNA repair protein, plays an important role in the maintenance of genomic integrity and is essential for the nucleotide excision repair pathway. Polymorphisms in the XPC gene may alter DNA rep...

Bilateral ocular surface squamous neoplasia: A study of 25 patients and review of liter...
https://doi.org/10.1177/11206721211007109
European Journal of Ophthalmology; Vempuluru VS, Pattnaik M et. al.

Apr 5th, 2021 - To describe the risk factors, clinical presentation, management, and outcomes of patients with bilateral ocular surface squamous neoplasia (OSSN). Retrospective case series. Of the 25 patients with bilateral OSSN, the mean age at diagnosis of OSSN...

Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008549
Journal of Medical Case Reports; Matsumoto M, Kaneshiro K et. al.

Mar 30th, 2021 - Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with...

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Guidelines  1 results

Xeroderma pigmentosum clinical practice guidelines.
https://doi.org/10.1111/1346-8138.13907
The Journal of Dermatology; Moriwaki S, Kanda F et. al.

Aug 4th, 2017 - Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic pr...

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Clinicaltrials.gov  1,081 results

Ocular surface squamous neoplasia following keratoplasty in xeroderma pigmentosa: A ser...
https://doi.org/10.1080/02713683.2021.1921218
Current Eye Research; Vempuluru VS, Ganguly A et. al.

Apr 28th, 2021 - To describe the clinical features and management of post-keratoplasty ocular surface squamous neoplasia (pk-OSSN) in patients with xeroderma pigmentosum (XP). Retrospective case series of 7 patients with XP. The mean age at diagnosis of pk-OSSN wa...

Association of DNA repair gene XPC Ala499Val (rs2228000 C>T) and Lys939Gln (rs2228001 A...
https://doi.org/10.1002/jgm.3339
The Journal of Gene Medicine; Lakkireddy S, Aula S et. al.

Apr 8th, 2021 - Xeroderma pigmentosum complementation group C (XPC), a DNA repair protein, plays an important role in the maintenance of genomic integrity and is essential for the nucleotide excision repair pathway. Polymorphisms in the XPC gene may alter DNA rep...

Bilateral ocular surface squamous neoplasia: A study of 25 patients and review of liter...
https://doi.org/10.1177/11206721211007109
European Journal of Ophthalmology; Vempuluru VS, Pattnaik M et. al.

Apr 5th, 2021 - To describe the risk factors, clinical presentation, management, and outcomes of patients with bilateral ocular surface squamous neoplasia (OSSN). Retrospective case series. Of the 25 patients with bilateral OSSN, the mean age at diagnosis of OSSN...

Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008549
Journal of Medical Case Reports; Matsumoto M, Kaneshiro K et. al.

Mar 30th, 2021 - Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with...

see more →

News  9 results

Fast Five Quiz: Malignant Melanoma
https://reference.medscape.com/viewarticle/936083_2

Aug 20th, 2020 - Primary risk factors and clinical warning signs for melanoma include: Changing mole (most important clinical warning sign) Presence of xeroderma pigmentosum or familial atypical mole melanoma syndrome Clinical atypical/dysplastic nevi in familial ...

NHS England Boss Knighted in New Year Honours
https://www.medscape.com/viewarticle/923186

Dec 27th, 2019 - Simon Stevens, head of NHS England becomes a Sir, leading this year's healthcare field in the 2020 New Year Honours List. The recipients in healthcare are alongside stars of sport, entertainment, public service, politics, charity work, and "the ou...

Expert spotlights telltale clinical signs of xeroderma pigmentosum
https://www.mdedge.com/pediatrics/article/207921/pediatrics/expert-spotlights-telltale-clinical-signs-xeroderma-pigmentosum?channel=39313
Doug Brunk

Sep 10th, 2019 - AUSTIN, TEX. – If a child presents with acute photosensitivity at a young age, onset of freckling before the age of 2 years, and severe sun damage of the lips and eyes, think xeroderma pigmentosum (XP), a rare autosomal recessive disorder.

Small Kansas Town Turns Night Into Day for Boy With Rare Disease
https://www.mdedge.com/clinicianreviews/article/150902/rare-diseases/small-kansas-town-turns-night-day-boy-rare-disease

Nov 1st, 2017 - A new documentary video developed by NORD shows how a small community in Kansas came together to support an 11-year-old boy who has a rare disease that makes it necessary for him to avoid sunlight. Peyton Madden has xeroderma pigmentosum (XP), a r.

Why you should use sunscreens indoors
https://www.mdedge.com/pediatrics/article/144842/aesthetic-dermatology/why-you-should-use-sunscreens-indoors
Lily Talakoub, MD, Naissan Wesley, MD

Aug 17th, 2017 - It may be surprising that there are dermatologic risks of UV exposure from lamps and other indoor light sources that we use daily. Is long-term daily exposure to presumably low-irradiance lights of clinical significance to photodermatoses? Recent.

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