FAMILIAL MULTIPLE CAFE AU LAIT SPOTS

Background: Familial multiple cafe au lair spots (CLS) represent a rar e, autosomal dominant pigmentary disorder characterized by the multipl e CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest tumors. Observa tions: We describe multiple CLS in 12 patients from three families, ea ch with at least two generations of affected adults. The clinical pres entation was consistent within families. In one family, the CLS were a ccompanied by axillary and inguinal freckling and Lisch nodules. Other wise, none of the 12 patients had neurofibromas or noncutaneous manife stations of NF-1. Conclusions: These families provide further evidence that patients may have multiple CLS, with or without axillary freckli ng or Lisch nodules, and yet not have NF-1. Care must be taken when co unseling families with CLS that the diagnosis of NF-1, with its many a ssociated potential problems, is not made erroneously. Studies of the gene mutation(s) of patients with familial multiple CLS are needed to distinguish NF-1 and familial multiple CLS as distinct disorders.