Publication: Xeroderma pigmentosa – A disfiguring disease
Date
2006
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
Abstract
Xeroderma pigmentosa is a rare inherited autosomal recessive disease with the inability to repair DNA damage
caused by UV light. Recognized in the late 1800 by Maritz Kaposi it has been reported world wide and in al1 races
with an over prevalence of 1-4 per million population. Kunwar et all 1,2. Those affected are extremely sensitive to the
UV portion of the light and have a 2000 fold increased risk of skin cancer in the sun exposed skin. Basal cell
carcinoma is the most commonly associated carcinoma followed by Squamous cell carcinoma and Melanoma. The
pigmentation on the face and the rest of the body can be horribly disfiguring. The recurring cancer occurring on the
face and repeated surgical treatment for the ulcerations have important social and psychological implications not
encountered with other cancers3. We report two cases of BCC and melanoma. The first case is of BCC of the face in
a teenaged girl coexisting with xeroderma pigmentosa. The second case presented with melanoma of the scalp in a
10years old female child. The details of these cases are presented and the management.
Key Words: Xeroderma pigmentosa, Autosomal recessive, Basal cell carcinoma, Squamous cell carcinoma,
Melanoma.