Familial Multiple Cafe au lait Spots

Sheryl L. Arnsmeier, Vincent M. Riccardi, Amy S. Paller*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Background: Familial multiple cafe au lait spots (CLS) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest tumors. Background: We describe multiple CLS in 12 patients from three families, each with at least two generations of affected adults. The clinical presentation was consistent within families. In one family, the CLS were accompanied by axillary and inguinal freckling and Lisch nodules. Otherwise, none of the 12 patients had neurofibromas or noncutaneous manifestations of NF-1. Conclusions: These families provide further evidence that patients may have multiple CLS, with or without axillary freckling or Lisch nodules, and yet not have NF-1. Care must be taken when counseling families with CLS that the diagnosis of NF-1, with its many associated 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.

Original languageEnglish (US)
Pages (from-to)1425-1426
Number of pages2
JournalArchives of Dermatology
Issue number11
StatePublished - Nov 1994

ASJC Scopus subject areas

  • Dermatology


Dive into the research topics of 'Familial Multiple Cafe au lait Spots'. Together they form a unique fingerprint.

Cite this