What is life like with xeroderma pigmentosum?

Xeroderma pigmentosum usually presents at age 1-2 years with photosensitivity and burning after minimal sun exposure. Later cutaneous manifestations include increasing dryness of skin, freckling, and telangiectasia. There is an increased incidence of skin cancer on sun exposed sites.

What is xeroderma pigmentosum and why does it happen?

Xeroderma pigmentosum (XP) is a rare condition passed down through families. XP causes the skin and tissue covering the eye to be extremely sensitive to ultraviolet (UV) light. Some people also develop nervous system problems.

Can you get xeroderma pigmentosum later in life?

Progressive XP ND originating in an adult has been identified in only a single case. Although clinically asymptomatic at the age of 47 years, the patient had audiometric evidence of a developing mild SNHL together with elicited signs and electrophysiologic evidence of a peripheral neuropathy.

What is the history of xeroderma pigmentosum?

Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner.

Can people with xeroderma pigmentosum go out in the sun?

People who have an extreme sensitivity to sunlight are born with a rare disease known as xeroderma pigmentosum (XP). They must take extreme measures to protect their skin from ultraviolet (UV) light. Anything that emits UV light, including the sun and some lightbulbs, can damage their skin.

Who does xeroderma pigmentosum affect?

Approximately 1 in 1 million people in the United States have xeroderma pigmentosum (XP). The symptoms of XP typically appear during infancy, and it is important to let a doctor know if there is sun damage, such as blistering, on an infant’s skin after minimal exposure to sunlight.

How old is the oldest person with XP?

Survival beyond the third decade of life is unusual. The authors present a 46-year-old patient with proven xeroderma pigmentosum who manifests many characteristic features of this affliction and may be one of the oldest, if not the oldest, living survivor of this unusual disease.

Who discovered xeroderma?

Most forms of the human hereditary disease xeroderma pigmentosum (XP) are due to a defect in nucleotide excision repair of DNA damage in skin cells associated with exposure to sunlight. This discovery by James Cleaver had an important impact on our understanding of nucleotide excision repair in mammals.

When was the first case of xeroderma pigmentosum?

Dermatologist Moriz Kaposi first described xeroderma pigmentosum in 1874. Dr. Kaposi described patients with dry skin, pigmentary changes, and the development of multiple skin tumors at a young age.

How long can you live with xeroderma pigmentosum?

Prognosis. The average life expectancy of an individual with any type of XP and no neurological symptoms is approximately 37 years, and 29 years if neurological symptoms are present.