Article thumbnail
Location of Repository

Oculocutaneous manifestations in xeroderma pigmentosa.

By J L Goyal, V A Rao, R Srinivasan and K Agrawal

Abstract

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%), and carcinoma of the tongue (20%). Among the ocular features, 50% of patients presented with photophobia. Lid freckles or atrophic skin lesions were seen in all patients. Lower lid tumours were seen in 30%, chronic conjunctival congestion in 40%, corneal opacification in 40%, squamous cell carcinoma of limbus in 20%, bilateral pterygium in 40%, and visual impairment in 50%. The clinical features (ocular and cutaneous) of the cases are discussed

Topics: Research Article
Year: 1994
DOI identifier: 10.1136/bjo.78.4.295
OAI identifier: oai:pubmedcentral.nih.gov:504766
Provided by: PubMed Central
Sorry, our data provider has not provided any external links therefore we are unable to provide a link to the full text.

Suggested articles


To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.