Xeroderma Pigmentosum Research Paper

Xeroderma Pigmentosum is a genetic disorder that causes hypersensitivity to the skin by exposing to UVB radiation. Skin, eyes, and nerves are the sites where the symptoms appear. In XP, DNA goes under mutation in the genes that repair that DNA. XP can be treated in various ways such as minimizing the exposure to the sun and chemical materials, protection using certain materials and surgical removal of tumors, and genetic counseling for patients and families.

Introduction

Xeroderma Pigmentosum (XP) is an autosomal recessive genetic disorder that causes the skin to be hypersensitive to the ultraviolet B (UVB) radiation. Due to the leakage of the required enzymes and proteins in the body cells to repair the damage of the deoxyribonucleic

These symptoms show up in early childhood or in late adulthood. These symptoms onset at three different sites of the body. The first symptoms appear on the skin which is the largest organ in our body. Symptoms including freckling, sunburn, and skin cancer (5). Freckles appear on the skin due to the exposure of sunlight. Exposure to UVB light increases the formation of melanin since the UVB light activates the melanocyte (8). Sunburn is another sign that appears on the skin that its characteristics are redness, swelling, and pain. Extended sun exposure leads to xerosis, dry skin (9). Also these patients have high opportunity of having skin cancer because of the patient’s cell inability to repair damaged DNA. Examples of skin cancer are basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. The second part for the symptoms to show up is in the eye. About 80% of patients have eye abnormalities (6). The symptoms are inflammation of the cornea, clouding of the lens, and excessive tearing.finally is the Neurological symptoms that affect roughly 30% of the patients. Microcephaly, for example, caused by mutation of many different genes in the brain causing smaller head (5). Spasticity is another sign that caused by damaging some sites of the brain or spinal cord

It is a recessive disease, which means both parents should carry it (11). There are subtypes of XP which are XP type A, B, C, D, E, F and G. Redness, dark spots, and pain appears in its early stages, and this can then progress into freckling, so skin cancer is more likely to occur. It also affects the eye’s cornea and eyelids. Because it is multigenic disease there is no known treatment but protection by applying sunscreen, wear sunglasses and thick clothes to prevent the UV radiation from reaching the skin. The need for avoidance of sunlight has given to individuals with a condition being nicknamed of children of the moon (11). Experts recommend for those with a family history of XP who want to have children to do genetic counseling