Xeroderma pigmentosum: Report of a Case / 대한피부과학회지

ABSTRACT

Xeroderma pigmentosum is a genodermatosis characterized by extreme sun sensitivity, photophobia, freckly hyperpigmentation, atrophy, telangiectases, keratoses and finally malignant degeneration of the skin. It is rare and prebobly inherrited as a recessive trait, Photosensitive cutaneous symptoms developed in complication with squamous cell ca is presented. A 20-year-old male were studied. Routine laboratory examinations were within normal limits including hemogram, urinalysis, blood urea nitrogen, serum creatinina, liver function tests(including bromsulphalaein excretion) and serum electrolytes, chest X-Ray. The histopathological picture showed characteristic xeroderma pigmentosum and squamous cell ca. Clinical, histopathological and biochemical features of this disease are also discuseed.