منابع مشابه
Oculocutaneous manifestations in xeroderma pigmentosa.
Xeroderma pigmentosum (XP) is a rare genetic disease characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. The oculocutaneous features of 10 patients with XP were studied retrospectively. General features included parental consanguinity (40%), familiarity (60%), onset of symptoms in first 2 years (50%), malignant skin neoplasms (60%), ...
متن کاملXeroderma pigmentosa--a disfiguring disease.
Xeroderma pigmentosa is a rare inherited autosomal recessive disease with the inability to repair DNA damage caused by UV light. Recognized in the late 1800 by Maritz Kaposi it has been reported world wide and in all races with an over prevalence of 1-4 per million population. Kunwar et al. Those affected are extremely sensitive to the UV portion of the light and have a 2000-fold increased risk...
متن کاملAnterior corneal pathology in chronic corneal edema.
We read with interest the recent article by Alomar et al. and would like to congratulate the authors for their detailed description of confocal microscopy observations in corneas with chronic edema and their excellent description of the correlation of these observations to histopathologic findings. We certainly appreciate the vast amount of time that was spent acquiring images of such excellent...
متن کاملSimultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملEyelid squamous cell carcinoma in xeroderma pigmentosa: a therapeutic challenge.
A 10-year-old male, Muslim child diagnosed with xeroderma pigmentosa with a right upper lid malignancy presented as a therapeutic challenge because of the non-availability of normal facial skin for grafting and lid reconstruction. The lid lesion had been present for the last one month. The disease had been present for past five years with polymorphous, erythematous lesions all over the body. On...
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ژورنال
عنوان ژورنال: Indian Journal of Ophthalmology
سال: 2018
ISSN: 0301-4738
DOI: 10.4103/ijo.ijo_469_18