Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage

Am J Med Genet. 1993 Mar 1;45(5):606-8. doi: 10.1002/ajmg.1320450518.


Multiple café-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 café-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 café-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 Café-Au-Lait Spots (FCAL) to distinguish it from the neurofibromatosis syndromes.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Genes, Dominant
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Infant
  • Male
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology
  • Pedigree
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • Skin / pathology*