From: Doug Skrecky (oberon@vcn.bc.ca)
Date: Sat May 17 2003 - 21:46:29 MDT
(perhaps not just for topical use)
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Eur J Dermatol 2003 Jan-Feb;13(1):4-9 Xeroderma pigmentosum.
Xeroderma pigmentosum is a rare disorder transmitted in an autosomal
recessive manner. Xeroderma pigmentosum is based on a genetic defect in
the DNA repair system. This disease manifests in early childhood.
Patients with xeroderma pigmentosum have a marked sensitivity to sunlight
and develop serious sunburns with onset of poikilodermia in the
light-exposed skin. Squamous cell carcinomas, basal cell carcinomas and
malignant melanomas already appear in childhood. The majority of patients
die before reaching adulthood because of metastases. Genetically,
xeroderma pigmentosum is divided into 7 complementation groups (XP-A to
XP-G) and the xeroderma pigmentosum variants (XP-V). Diagnostically,
assignment to the specific complementation group is made according to the
fusioning of xeroderma pigmentosum fibroblasts. Differential diagnosis
must distinguish xeroderma pigmentosum from other so-called
DNA-repair-deficiency syndromes like the Cockayne Syndrome and
trichothiodystrophy. Currently, there are reports of successful
application of a topical DNA Repair Enzyme. This is a recombinant
liposomal encapsulated T4 endonuclease V, which repairs UV-induced
cyclobutan-pyrimidine dimers. In future, causal therapy could be based on
gene therapy. The introduction of an intact repair gene which
specifically codes the repair protein, could open new possibilities in
the treatment of xeroderma pigmentosum.
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