Xeroderma pigmentosum: heterogeneous syndrome and model for UV carcinogenesis

Bull Cancer. 1978;65(3):315-21.


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.

MeSH terms

  • Adult
  • Cell Fusion
  • Child, Preschool
  • DNA Repair
  • Female
  • Humans
  • Male
  • Models, Biological
  • Mutation
  • Neoplasms, Radiation-Induced*
  • Skin Neoplasms / etiology
  • Ultraviolet Rays / adverse effects*
  • Xeroderma Pigmentosum / genetics
  • Xeroderma Pigmentosum / metabolism*