Xeroderma pigmentosum (XP) is a rare autosomal recessive disease; relatively mild XP patients are sometimes designated as having pigmented xerodermoid or xerodermoid pigmentosum (XP-V), a variant of XP. It is commonly associated with many long-standing skin conditions and
tumors, including
malignancies, management of which is necessary to prevent the progress of the disease. The objective of the study was to report the use of a number of innovative therapeutic and prophylactic treatments, beyond surgery, such as topical
5-fluorouracil, topical
imiquimod, other topical
immunomodulators, or
photodynamic therapy, in treating skin eruptions and their complications in XP patients. This was a prospective therapeutic interventional study in which 50 patients with XP-V were evaluated. Age of subjects ranged from 2 to 50 years with a mean age of 18 years. This study was divided into two parts. In part one, patients were treated by applying topical
zinc sulfate 25% twice daily on entire face for 2 months, then once daily for several months or years. In another instance, two women were treated with heat
dermabrasion with needle
diathermy on the entire face under
local anesthesia, followed by application of
trichloroacetic acid 35% peeling in a single session. In part two, topical
podophyllin 25% was used as
therapy for 18 patients, all of whom had XP complications, such as
keratoacanthoma,
basal cell carcinomas and
squamous cell cancers.1
Podophyllin was applied to the lesions until complete resolution was documented. All patients treated with topical
zinc sulfate 25% responded well as determined by clearance of
actinic keratoses (ActK) and small malignant lesions, minimization of pigmented
freckles, prevention of new lesions, and ceased progress of eruptions. Heat
dermabrasion administered in a single session resulted in the clearance of pigmented
freckles, ActK, and small
tumors, and cessation of new eruptions during follow-up that continued for up to 6 years.