In this article we will discuss about What is Xeroderma Pigmentosum? So let’s get started.
It is a autosomal recessive type of genetic disorder. It is caused due to genetic mutation in gene that repair damaged DNA, with mutation in the nucleotide excision repair (NER) enzyme. Mutation in XPG (ERCC5) gene can alone cause Xeroderma Pigmentosum. It’s frequency is 1 in 250,000 people in US, 1 in 20,000 in Japan and 1 in 430,000 in Europe. It was first discovered by Moritz Kaposi in 1870s. Symptoms include severe sunburn with just few minutes if sun exposure, freckles in sun exposed areas, corneal ulceration, eyes are painfully sensitive to sun and gets easily irritated, bloodshot and clouded, solar keratoses or rough surface growth, skin cancers, dry skin and presence of spider veins or telangiectasia. Complication includes skin cancer, brain cancers and cataracts. Treatment is avoid sun exposure, Vitamin D supplementation, retinoid creams. Average life expectancy is about 30 years.