Ocular Manifestations of Xeroderma Pigmentosum

Malignant and Pre-Malignant Manifestations of Xeroderma Pigmentosum in Ghanaians

Introduction: Xeroderma pigmentosum is an autosomal recessive disease with sun sensitivity, photophobia, early onset of freckling, and subsequent neoplastic changes on sun-exposed surfaces. There is cellular hypersensitivity to UV radiation and to certain chemicals in association with abnormal DNA repair. Patients with defective DNA nucleotide excision repair (NER) have defects in one of seven ...

Xeroderma pigmentosum.

Xeroderma pigmentosum.

OBJECTIVE To describe the features of Xeroderma pigmentosum observed in the stage 3 of the disease. STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Mayo Hospital Lahore, from December 2001 to September 2008. METHODOLOGY All patients diagnosed with Xeroderma pigmentosum stage 3 in the outpatient department of the study centre, were included. The age at first presentation, tumour site...

Xeroderma pigmentosum.

Seven cases of XP seen during a relatively short period of time, possibly indicate a high frequency of this gene in this part of the country. The gene frequency in the general population has been reported to be 1 in 200 million and the frequency of the disorder, 4 in 1 million(3). Countries like Libya, Egypt, Israel and Japan, with a high degree of consanguinity, have a high incidence of this d...

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live birt...