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Xeroderma Pigmentosum: Xeroderma pigmentosum is an autosomal recessive genetic disorder in which the DNA loses its ability to repair damage caused due to ultraviolet rays. Symptoms include, severe sunburn at the slightest exposure to sun, early development of freckles, irregular dark spots or premature aging of the skin. Such individuals are prone to skin cancer and other skin malignancies. The main way to control worsening of skin condition is to avoid exposure to sun and to use sun protective creams, clothes and physical sunscreens. Medications and other forms of treatment like cryotherapy can be used (cryotherapy is suggested to treat existing keratoses).


Xeroderma pigmentosum (pronounced: zer-o-der-ma/pig-men-toe-sum) is a very rare skin disorder where a person is highly sensitive to sunlight (photosensitive), has premature skin aging and is prone to developing skin cancers.

People with xeroderma pigmentosum have a defect in the gene that is responsible for repairing cell damage caused by UV light. This defect leads to cancerous cells or cell death.

Xeroderma pigmentosum is characterized by multiple pigmented spots and larger atrophic lesions, and a glossy white thinning of the skin. The pigmented spots look like freckles.

An unusually severe sunburn after a short sun exposure. The sunburn may last for several weeks. The sunburn usually occurs during a child’s first sun exposure.
development of many freckles at an early age.
Irregular dark spots.
Thin skin.
Excessive dryness.
Rough-surfaced growths (solar keratoses), and skin cancers.
Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded.
Blistering or freckling on minimum sun exposure.
Premature aging of skin, lips, eyes, mouth and tongue

Usually xeroderma pigmentosum is detected between the ages of 1 and 2 years old. Your doctor will take blood and urine samples and measure the DNA repair factor.

Unfortunately, there is no cure for xeroderma pigmentosum. The main goal of treatment is to protect the patient from UV exposure and thus prevent the damaging effects it can have on the skin.