Orphanet Journal of Rare Diseases, 2011 Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers.
Lehmann Alan R +2 more
doaj +8 more sources
Xeroderma pigmentosum: an updated review [PDF]
Drugs in Context, 2022 Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation.
Alexander KC Leung +4 more
doaj +4 more sources
Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient [PDF]
Frontiers in EndocrinologyXeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme.
Shu-hui Wu +5 more
doaj +2 more sources
Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child [PDF]
Clinical Case Reports, 2023 Key Clinical Message Xeroderma pigmentosum is an autosomal recessive disorder with various ocular manifestations of which bilateral limbal stem cell deficiency is a rare manifestation.
Bharat Gurnani, Kirandeep Kaur
doaj +2 more sources
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers [PDF]
Frontiers in Oncology, 2023 BackgroundXeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers.
Elvelyn R. Fernandez +7 more
doaj +2 more sources
Immune checkpoint inhibitors for children with xeroderma pigmentosum and advanced cutaneous squamous cell carcinoma: A case presentation and brief review. [PDF]
J Dtsch Dermatol GesSummary Patients with xeroderma pigmentosum (XP) frequently develop skin cancers early in life, including cutaneous squamous cell carcinoma (cSCC). The median age of death is 32 years and 60% of XP patients die before the age of 20 years. cSCC in patients with XP exhibits an exceptionally high mutation burden, suggesting a favorable response to immune ...
Gambichler T +4 more
europepmc +2 more sources
Treatment of corneoscleral mixed hemangioma by intrastromal lenticule transplantation in a case of xeroderma pigmentosum: a case report [PDF]
BMC OphthalmologyBackground Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disease. The ocular manifestations in XP patients usually include severe photophobia, conjunctivitis, corneal opacification, ocular surface squamous neoplasia (OSSN) which often ...
Yingwei Wang +8 more
doaj +2 more sources
Xeroderma pigmentosum: case report [PDF]
Revista Paulista de Pediatria, 2023 Objective: The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xeroderma pigmentosum (XP).
Maria Eduarda Coelho Cordeiro +2 more
doaj +2 more sources
Immuncheckpoint‐Inhibitoren bei Kindern mit Xeroderma pigmentosum und fortgeschrittenem kutanen Plattenepithelkarzinom: Fallvorstellung und kurzer Überblick [PDF]
J Dtsch Dermatol GesZusammenfassung Patienten mit Xeroderma pigmentosum (XP) entwickeln häufig bereits in jungen Jahren Hautkrebs, darunter auch kutane Plattenepithelkarzinome (cSCC). Das mediane Sterbealter liegt bei 32 Jahren, und 60% der XP‐Patienten versterben vor dem 20. Lebensjahr.
Gambichler T +4 more
europepmc +2 more sources
BASAL CELL CARCINOMA IN XERODERMA PIGMENTOSUM IN AN 18.YEAR.OLD MALE [PDF]
Majalah Kedokteran Andalas, 2014 Xeroderma pigmentosum (XP) is a rare autosomalrecessiye disorder that occurs becauseof inactivation of the xeroderma pigmentosum protein, which is an important DNA damagerecognition protein involved in DNA nucleotide excision repair (NER).
Satya Wydya Yenny, Frien Refla Syarif
doaj +4 more sources