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
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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
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Acta geneticae medicae et gemellologiae, 1959 SUMMARYFollowing some observations on the pathogenesis and clinical manifestations of « Xeroderma Pigmentosum «, two histologically ascertained cases are reported, as studied in the dermosyphilopathic Clinic of Berlin's Free University.In the first case it was possible to prove parental consanguinity, already mentioned by Siemens as proof of irregular ...
Harry C. Dorn
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Bleomycin in xeroderma pigmentosum [PDF]
Cancer, 1973 A child with multiple squamous cell carcinomas associated with xeroderma pigmentosum (XP) was treated with Bleomycin on a twice weekly schedule utilizing a dosage of 30 mg/m2. Satisfactory clinical responses of facial and scalp lesions were observed. A total cumulative dose of 441 mg (630 mg/m2) was administered before fatal pulmonary toxicity occurred
Joan Short, R Price, Charles B. Pratt
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A case of rapidly growing conjunctival squamous cell carcinoma in a 3-year-old child with xeroderma pigmentosum: a case report [PDF]
Journal of Medical Case ReportsBackground Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by hypersensitivity to ultraviolet light owing to mutation of nucleotide excision repair genes.
Birhanu Kassie Reta +5 more
doaj +2 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
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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
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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
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