XERODERMA PIGMENTOSUM WITH OCULAR COMPLICATIONS

XERODERMA PIGMENTOSUM WITH NEUROLOGICA L COMPLICATIONS: THE DESA NCTIS-CA CCHIONE SYNDROME

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

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...