Limbal stem cell deficiency and xeroderma pigmentosum: a case report
نویسندگان
چکیده
منابع مشابه
Xeroderma pigmentosum: a case report.
This paper presents a case study of a child with xeroderma pigmentosum (XP). The disease results in sensitivity to UV radiation as a result of reduced activity in a defective enzyme responsible for DNA repair. Affected individuals have a variety of clinical symptoms, which may include problems of the skin and oral mucosa, ocular manifestations, and neurologic impairment. A number of precautions...
متن کاملXeroderma pigmentosum: a case report and review of the literature.
Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition xeroderma pigmentosum. Xeroderma pigmentosum is characterized by photo-hypersensitivity of sun-exposed tissues, and by a several thousand-fold increase in the risk of developing malignant neoplasms of the skin and of the eyes. Mutations in xeroderma pigmentosum genes that regulate nucleotide ...
متن کاملXeroderma Pigmentosum – A case report with oral implications
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. Important clinical features are: intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous...
متن کاملXeroderma pigmentosum: a review and case series.
Xeroderma pigmentosa (XP) is a condition inherited as an autosomal recessive trait and is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from the defect in DNA repair. The management of complications of XP, especially orofacial tumours entails an enormous surgical challenge to the clinicians. We present five cases of XP.
متن کاملClinical Pearls in Anesthesia for Xeroderma Pigmentosum: A Case Report
Xeroderma Pigmentosum (XP) is a rare autosomal recessive (AR) disease characterized by hypersensitivity of the skin to ultra violet (UV) radiation, resulting in a high frequency of UV induced skin tumors and progressive neurological complications at an early age. Through the following case report we emphasize that perioperative management of xeroderma patients entails meticulous evaluation for ...
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ژورنال
عنوان ژورنال: Eye
سال: 2004
ISSN: 0950-222X,1476-5454
DOI: 10.1038/sj.eye.6700717