Fanconi anemia.

Abstract

Fanconi anemia is a phenotypically and genotypically heterogeneous syndrome in which patients manifest various congenital abnormalities, bone marrow failure, and predisposition to malignancy. The primary dermatologic manifestations are pigmentation abnormalities (hyperpigmentation, hypopigmentation, café-au-lait spots) and cutaneous malignancies. The gene for one of the complementation groups (FACC) has been cloned, and the gene product has been shown to have a cytoplasmic localization, ruling out a direct role for the Fanconi anemia gene in DNA repair. A better understanding of the function of the FACC polypeptide, and the cloning of genes for the other Fanconi anemia complementation groups, should lead to a better understanding of the basic problems of birth defects and cancer predisposition and the interaction of genetic and epigenetic factors in the pathogenesis of these problems.