[Xeroderma pigmentosum: children of the moon].
Xeroderma pigmentosum is based on a genetic defect in the DNA repair system, which is diagnosed in early childhood. Xeroderma pigmentosum is a rare disorder, which is transmitted in an autosomal recessive manner. Children with xeroderma pigmentosum display hypersensitivity to ultraviolet (UV) radiation. These patients experience serious sunburns with minimal exposure and then develop poikiloderma in the sun-exposed areas. Squamous cell carcinomas, basal cell carcinomas and malignant melanomas all appear during childhood. The majority of patients do not reach adult, but die from metastatic cutaneous malignancies. Genetically, xeroderma pigmentosum is differentiated into 7 complementation groups (XP-A to XP-G) and the xeroderma pigmentosum variants (XP-V). The assignment to the specific complementation group is made by fusing of xeroderma pigmentosum fibroblasts. Xeroderma pigmentosum must be distinguished from other so-called DNA repair deficiency syndromes, including Cockayne syndrome and trichothiodystrophy. A topical DNA repair enzyme appears to be helpful. A recombinant liposomal encapsulated T4 endonuclease V repairs UV-induced cyclobutane-pyrimidine dimers. Direct curative treatment of xeroderma pigmentosum could be achieved with gene therapy in future. Transfection of an intact repair gene which specifically codes for the missing repair protein could open new possibilities in the therapy of xeroderma pigmentosum.
Herouy
Yared
Y
Universitäts-Hautklinik, Albert-Ludwigs-Universität, Freiburg. herouy@haut.ukl.uni-freiburg.de
Krutmann
Jean
J
Norgauer
Johannes
J
Schöpf
Erwin
E
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009381:Neoplasms, Radiation-Induced / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology* / Q000628:therapy; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology* / Q000628:therapy; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy