Xeroderma pigmentosum: heterogeneous syndrome and model for UV carcinogenesis.
Xeroderma pigmentosum (XP) is a rare inherited, heterogeneous syndrome with pigment anomalies, sun sensitivity, multiple cutaneous neoplasms and abnormal self protecting systems (SPS). The transmittence is autosomal-recessive. 50 percent of XP patients gets melanoma and 15 percent have neurological abnormalities. Clinical differentiation, determination of the DNA repair rate and cell fusion studies allow the differentiation of 6 complementation groups including De Sanctis-Cacchione syndrome and the XP variant typ. Pigmented Xerodermoid is a special form. Cytogenetic studies give evidences for the model character of XP for UV carcinogenesis.
D000328:Adult; D002459:Cell Fusion; D002675:Child, Preschool; D004260:DNA Repair; D005260:Female; D006801:Humans; D008297:Male; D008954:Models, Biological; D009154:Mutation; D009381:Neoplasms, Radiation-Induced; D012878:Skin Neoplasms / Q000209:etiology; D014466:Ultraviolet Rays / Q000009:adverse effects*; D014983:Xeroderma Pigmentosum / Q000235:genetics / Q000378:metabolism*