Also known as XP it is a rare skin disorder, making sufferers highly sensitive to sunlight. Daylight is deadly to the skin, which means sufferers can only venture outdoors at nighttime.
What causes Xeroderma Pigmentosum?
People with Xeroderma Pigmentosum have a defect in the gene that is responsible for repairing cell damage caused by UV light. This defect turns cells cancerous or make them die. Sufferers inherit one recessive Xeroderma Pigmentosum gene from each parent. There are only about 1000 known cases worldwide.
- Several pigmented spots on the skin with the same appearance as freckles.
- Larger atrophic lesions on the skin.
- A glossy white thinning of the skin.
Signs and symptoms:
The following symptoms are usually visible at an early age:
- An unusually severe sunburn after being exposed to the sun for a short period of time.
- Unusually large amount of freckles on the skin.
- Irregular dark spots on the skin.
- Thin skin.
- Excessive dryness of the skin.
- Rough-surfaced growths on the skin, known as solar keratoses.
- Skin cancers.
- Eyes that are painfully sensitive to the sun and easily become
irritated, bloodshot, and clouded.
- Premature aging of skin, lips, eyes, mouth and tongue.
Usually Xeroderma Pigmentosum is detected in children between the ages of 1 and 2. A doctor will take blood and urine samples and measure the DNA repair factor.
Many patients with Xeroderma Pigmentosum die at an early age from skin
cancers. Some do, however, survive beyond middle age for the following reasons:
- They are diagnosed early.
- They have no severe neurological symptoms.
- They suffer from a mild variant of the disease.
- They take all the precautionary measures to avoid exposure to UV light.