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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, February 10, 2012
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, February 10, 2012
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Skin Care and Diseases |
Xeroderma pigmentos01/21/2000 |
I am looking for info on xeroderma pigmentosa.
Your inquiry indicated you were looking for information on xeroderma pigmentosa. This is an inheritable disease in which the skin cells are increasingly sensitive to injury from ultraviolet light in particular.
It is an autosomal recessive disease so that there is an equal expression in men and women, and it is seen in approximately 1 out of every 250,000 births in the United States.
It is most commonly seen in the preschool age individuals and is first noted as severe reaction to acute sunburn. Following sun exposure brown patches develop, thickening of the skin occurs, thinning of the skin in some areas occurs, and pre-malignant keratoses begin to appear. These may and often do evolve into malignancies.
There is approximately a thousand-fold increase in the number of basal cell and squamous cell carcinomas and melanoma for the age group under 20. There is also a 10-20% increase in the risk of various internal malignancies.
The patient's eyes are damaged easily with light and they develop corneal opacification, inflammatory keratitis, and ectropion. These changes may ultimately lead to blindness if they are not cared for. There may be neurologic deficits. The range may be from 18-40% and may be mild hyper-reflexia, severe mental retardation. There may be neurosensory hearing loss and seizures.
The basic defect appears to be a diminished or absence of ability to recover from ultraviolet radiation damage. The defect is thought to be in the inability of the body to remove damaged parts of DNA and replace it with normal segments.
Treatment involves STRICT avoidance of sun damage, wearing sunscreens with a sun-protective factor of 30 or greater, wearing appropriate clothing and hats, and lifestyle modification. The skin should be examined frequently, as should the eyes. A physician should remove any premalignant lesions on a regular basis.
There have been some reports of the use of Isotretinoin to normalize some keratotic lesions and to minimize cancer formation, but that is not considered routine therapy. If you are interested in extensive review there are several excellent references for you:
(1) Dermatology in General Medicine by Fitzpatrick, Eisen, Wolff, et al. Fourth edition, 1993: pp 1074-1980.
(2) Xeroderma Pigmentosum: Cutaneous, Ocular and Neurologic Abnormalities in 830 Published Cases by Kraemer, Lee, Scotto. Archives of Dermatology 1987; 123:241-250.
(3)Prevention of Skin Cancer in Xeroderma Pigmentosum with the Use of Oral Isotretinoin by Kraemer, DiGiovanna, Moshell, et al. New England Journal of Medicine 1988; 318:1633-1637.
(4)Xeroderma Pigmentosum by Lambert, Kuo, Lambert. Dermatologic Clinis 1995; 13(1):169-209.
If you, a friend, or member of your family has this disorder I would encourage you to seek the care of a qualified dermatologist. As well, I would suggest that genetic counseling might help the families prevent further problems.
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Charles L Heaton, MD Professor Department of Dermatology College of Medicine University of Cincinnati |
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