Results 11 to 20 of about 15,819 (153)
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
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
Molecular Genetics & Genomic Medicine, 2020 Background Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper‐sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cancer ...
Muhammad Z. Ali +7 more
doaj +2 more sources
Basal Cell Carcinoma in Cases with or without Xeroderma Pigmentosum
Journal of Nepal Medical Association, 2017 Introduction: Basal cell carcinoma is the most common form of cancer in humans and comprises the vast majority of skin cancers. It predominantly affects fair-skinned individuals, and its incidence is rapidly increasing.
Dilasma Ghartimagar +5 more
doaj +2 more sources
A case of squamous cell carcinoma of the lower lip secondary to xeroderma pigmentosum in a child [PDF]
Kouqiang yixueXeroderma pigmentosum (XP) is a rare autosomal recessive disorder related to XP gene variation, often causing secondary malignant tumors. This article reports a case of a young child with secondary squamous cell carcinoma of the lower lip caused by ...
LI Shiyong, WU Yong, ZHANG Xin, MA Wen, WANG Sihang, FU Shuai
doaj +2 more sources
A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitvity in a xeroderma pigmentosum patient [PDF]
, 2009 This article has been made available through the Brunel Open Access Publishing Fund.Background: Radiotherapy-induced DNA double strand breaks (DSB) are critical cytotoxic lesions.
Bourton, EC +9 more
core +7 more sources
Peripheral Neurolopathy in Xeroderma Pigmentosum
Pediatric Neurology Briefs, 1990 The peripheral nerve pathology in two autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) is reported from the Tokyo Medical and Dental University, Tokyo Metropolitan Neurological Hospital, and Tokyo Metropolitan Kita Medical
J Gordon Millichap
doaj +2 more sources
Xeroderma Pigmentosum With Early And Rapid Development Of Malignancy
Indian Journal of Dermatology, 2000 A case of xeroderma pigmentosum in a 9 year old developing multiple tumours over a short period of 6 months is reported. The tumours showed two different types of malignancies-squamous cell carcinoma and malignant melanoma.
Ghosh Arghyaprasum +2 more
doaj +1 more source
Xeroderma pigmentosum (case report)
Indian Journal of Ophthalmology, 1990 Xeroderma pigmentosum is a rare, hereditary and fatal disease of the skin. Ocular involvement is known to occur in 80% of cases. A case with typical cutaneous and ocular lesions is reported.
Dubey Arvind +4 more
doaj +1 more source
Xeroderma Pigmentosum: Variable Expressions among Three Siblings
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.
M Srinivasa Raju +3 more
doaj +1 more source