Results 1 to 10 of about 25,299 (246)
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
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
doaj +2 more sources
Xeroderma Pigmentosum: a case report with oral implications [PDF]
, 2012 Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Antônio Barreto, Jaison +5 more
core +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
Sarcomatoid Carcinoma of Orbit in a Patient With Xeroderma Pigmentosum. [PDF]
J Med Cases, 2023 Banjade P +6 more
europepmc +3 more sources
Indian Journal of Dermatology, 2002 A case of typical xeroderma pigmentosum with pre-malignant and malignant tumours is being reported. The patient, a 13 year old male had presented with progressive freckling, dryness and hypo pigmented atrophic lesions on the body, especially the exposed ...
Dogra Alka +2 more
doaj +1 more source
Xeroderma pigmentosum and acute myeloid leukemia: a case report
Journal of Medical Case Reports, 2021 Background Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood.
H. Bencharef +7 more
doaj +1 more source
Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report
Journal of Medical Case Reports, 2021 Background 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.
Masataka Matsumoto +2 more
doaj +1 more source