Ocular surface squamous neoplasia in Xeroderma pigmentosum

Rajesh R. Nayak; Gurudutt M. Kamath; Manjunath M. Kamath; Ajay R. Kamath; Susan D'Souza; Roopashree

Ocular surface squamous neoplasia in Xeroderma pigmentosum

Rajesh R. Nayak, Gurudutt M. Kamath, Manjunath M. Kamath, Ajay R. Kamath, Susan D'Souza, Roopashree

Department of Ophthalmology, Kasturba Medical College, Mangalore

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1 Citation (Scopus)

Abstract

Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiationinduced DNA damage. Persistence of un-repaired DNA results in somatic mutations, leading to neoplasia of the skin and ocular surface. As this condition is rare, only isolated case reports of XP with ocular surface squamous neoplasia (OSSN) are found in literature.

Original language	English
Article number	15
Journal	Online Journal of Health and Allied Sciences
Volume	12
Issue number	3
Publication status	Published - 01-07-2013

All Science Journal Classification (ASJC) codes

Medicine(all)

Cite this

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abstract = "Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiationinduced DNA damage. Persistence of un-repaired DNA results in somatic mutations, leading to neoplasia of the skin and ocular surface. As this condition is rare, only isolated case reports of XP with ocular surface squamous neoplasia (OSSN) are found in literature.",

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AU - Kamath, Gurudutt M.

AU - Kamath, Manjunath M.

AU - Kamath, Ajay R.

AU - D'Souza, Susan

AU - Roopashree,

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N2 - Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiationinduced DNA damage. Persistence of un-repaired DNA results in somatic mutations, leading to neoplasia of the skin and ocular surface. As this condition is rare, only isolated case reports of XP with ocular surface squamous neoplasia (OSSN) are found in literature.

AB - Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiationinduced DNA damage. Persistence of un-repaired DNA results in somatic mutations, leading to neoplasia of the skin and ocular surface. As this condition is rare, only isolated case reports of XP with ocular surface squamous neoplasia (OSSN) are found in literature.

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Ocular surface squamous neoplasia in Xeroderma pigmentosum

Abstract

All Science Journal Classification (ASJC) codes

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