Журнал исследований первичного и приобретенного иммунодефицита

Xeroderma Pigmentosum: A Case Report of Two Siblings

Minal Chaudhary, Suhas N. Jajoo and Rashmi Agarwal

Xeroderma Pigmentosum: A Case Report of Two Siblings

Xeroderma Pigmentosum (literally means dry pigmented skin) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and greatly elevated incidence of skin cancers (Alan R Lehman et al.). Herba and Kaposi first described Xeroderma Pigmentosum in 1974. Kramer et al. found an equal sex predilection and significant parental consanguinity, confirming an autosomal recessive inheritance pattern. The incidence of XP seems to vary across the globe. The incidence reported in US and Europe is 1:250000 and in Japan and other countries at a higher frequency 1:40000. Its incidence is not that significant in context to the other part of the world. The basic defect underlying the clinical manifestations is a nucleotide excision repair (NER) defect leading to a defective repair of DNA damaged by ultra violet (UV) radiation. Historically, the disease was classifies as classical XP with only skin abnormalities and the De-Sanctis-Cacchione syndrome with skin abnormalities and extreme neurological degeneration was evident.