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Xeroderma Pigmentosum

Xeroderma pigmentosum is an unusual genetic disorder, marked by the inability of DNA to repair mutations caused by ultraviolet light. The result is numerous basaliomas and other carcinomas of the skin while the patient is quite young. For those who have particularly susceptible skin, skinlight and other sources of ultraviolet light – sometimes even televisions – must be avoided. Xeroderma pigmentosum comes in eight different types, each allowing different degrees and types of damage to the skin’s DNA.

While there may be no obvious damage when the baby is first exposed to ultraviolet light, over time damage accumulates in the skin’s DNA. Ultimately, enough damage is caused to suppress certain growth and antigrowth factors, allowing for tumors to develop, both benign and malignant.

The primary treatment for xeroderma pigmentosum is avoiding the sun to the degree possible – not wearing sunscreen, not staying in the shade, but remaining completely out of ultraviolet light. Isotretinoin can be used to treat keratoses.

This disease has been romanticized in movies and books, as the tragedy of the victims is that from the very earliest age they cannot play outside in the sun. Walt Disney World, at one point, had a special nighttime opening, from midnight to 4 am, so that a group of these children could enjoy the park, as they normally would not. NASA has developed, for at least one child, a special sun suit to completely block ultraviolet light from her skin.

Web Resources On Xeroderma Pigmentosum

Xeroderma Pigmentosum Society
Xeroderma as a Pathophysiology

Book Resources On Xeroderma Pigmentosum

Understanding xeroderma pigmentosum by Kenneth H Kraemer
Defective DNA repair in the human skin disease xeroderma pigmentosum by Willem Jan Kleijer

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