The Ewha Medical Journal
Ewha Womans University School of Medicine
Case Report

A Case of Xeroderma Pigmentosum Associated with Squamous Cell Carcinoma

Ha Rin Lee, Mi Ae Lee, Hyung Chul Kang, Jeong Hee Hahm

Copyright ⓒ 1994. Ewha Womans University School of Medicine. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Published Online: Dec 31, 1994

Abstract

Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by extreme photosensitivity and defect in repair of damage to DNA Lentigenes, freckles, telangiectasia and the hyperpigmented cutaneous macules in the sun-exposed area and early development of cutaneous malignancies are observed. In addition to cutaneous symptoms, ophthalmologic changes and neurologic abnormalities can be associated.

We report a case of xeroderma pigmentosum associated with squamous cell carcinoma in a 4-year-old girl. This case is thought to be more earlier development of malignancies than ever reported.