Transcript Josh - local.brookings.k12.sd.us

About XP
• Xeroderma pigmentosum 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.
Frequency
• The frequency in the United States is
approximately 1 case per 250,000 population.
• The frequency in Europe is approximately 1
case per 250,000 population.
• In Japan 1 case per 40,000 population.
Race, Sex, and Age
• Cases of xeroderma pigmentosum are
reported in persons of all races.
• An equal prevalence has been reported in
males and females.
• The disease is usually detected at age 1-2
years.
More About XP
• Xeroderma pigmentosum is a rare disorder
transmitted in an autosomal recessive
manner. It is characterized by photosensitivity,
pigmentary changes, premature skin aging,
and malignant tumor development.
• These manifestations are due to a cellular
hypersensitivity to ultraviolet (UV) radiation
resulting from a defect in DNA repair.
Birth
• You can not detect it at or before the birth of
the child, you don’t generally detect it until
the child is 6 months when the first of three
stages start.
Symptoms
• 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, 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
Reproduction?
• Most people with xeroderma pigmentosum
have normal sexual development and
functioning, and they are able to have
children. The probability of a person with
xeroderma pigmentosum having a child with
xeroderma pigmentosum is very small.