AUTOSOMAL DOMINANT MULTIPLE CAFE-AU-LAIT SPOTS AND NEUROFIBROMATOSIS-1 - EVIDENCE OF NON-LINKAGE

Multiple cafe-au-lait spots have been observed in successive generations of several families without any other manifestations of neurofibromatosis (NF) or any other systemic disorder. The cafe-au-lait spots in these families segregate as an autosomal dominant trait. The relationship (if any) between the gene for this trait and the NF-1 gene has previously been unknown. We describe a family with five individuals spanning four generations with dominantly inherited cafe-au-lait spots, without any other stigmata of NF-1. Linkage analysis with probes proximal, distal, and within the NF-1 gene indicate that the trait in this family is not linked to NF-1. We propose that this condition be called Familial Cafe-Au-Lait Spots (FCAL) to distinguish it from the neurofibromatosis syndromes.