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About 2,156 results

ALLMedicine™ Xeroderma Pigmentosum Center

Research & Reviews  1,071 results

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...

Inherited skin disorders presenting with poikiloderma.
https://doi.org/10.1111/ijd.15498
International Journal of Dermatology; Rayinda T, van Steensel M et. al.

Mar 19th, 2021 - Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikilo...

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to b...
https://doi.org/10.1111/cge.13957
Clinical Genetics; Agolini E, Botta E et. al.

Mar 18th, 2021 - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichot...

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature rev...
https://doi.org/10.1111/cup.13979
Journal of Cutaneous Pathology; Baykal C, Atcı T et. al.

Feb 11th, 2021 - Xeroderma pigmentosum (XP) is a rare genodermatosis with a lifelong propensity to develop malignant skin tumors. In this retrospective study, 24 XP patients were evaluated with regard to frequency and clinicopathological features of benign and mal...

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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  1,075 results

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...

Inherited skin disorders presenting with poikiloderma.
https://doi.org/10.1111/ijd.15498
International Journal of Dermatology; Rayinda T, van Steensel M et. al.

Mar 19th, 2021 - Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikilo...

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to b...
https://doi.org/10.1111/cge.13957
Clinical Genetics; Agolini E, Botta E et. al.

Mar 18th, 2021 - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichot...

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature rev...
https://doi.org/10.1111/cup.13979
Journal of Cutaneous Pathology; Baykal C, Atcı T et. al.

Feb 11th, 2021 - Xeroderma pigmentosum (XP) is a rare genodermatosis with a lifelong propensity to develop malignant skin tumors. In this retrospective study, 24 XP patients were evaluated with regard to frequency and clinicopathological features of benign and mal...

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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