Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1

Pediatr Dermatol. 2016 Sep;33(5):526-9. doi: 10.1111/pde.12936. Epub 2016 Jul 28.


Background: The presence of six or more café au lait (CAL) spots is a criterion for the diagnosis of neurofibromatosis type 1 (NF-1). Children with multiple CAL spots are often referred to dermatologists for NF-1 screening. The objective of this case series is to characterize a subset of fair-complected children with red or blond hair and multiple feathery CAL spots who did not meet the criteria for NF-1 at the time of their last evaluation.

Methods: We conducted a chart review of eight patients seen in our pediatric dermatology clinic who were previously identified as having multiple CAL spots and no other signs or symptoms of NF-1.

Results: We describe eight patients ages 2 to 9 years old with multiple, irregular CAL spots with feathery borders and no other signs or symptoms of NF-1. Most of these patients had red or blond hair and were fair complected. All patients were evaluated in our pediatric dermatology clinic, some with a geneticist. The number of CAL spots per patient ranged from 5 to 15 (mean 9.4, median 9).

Conclusion: A subset of children, many with fair complexions and red or blond hair, has an increased number of feathery CAL spots and appears unlikely to develop NF-1, although genetic testing was not conducted. It is important to recognize the benign nature of CAL spots in these patients so that appropriate screening and follow-up recommendations may be made.

MeSH terms

  • Ambulatory Care Facilities
  • Cafe-au-Lait Spots / diagnosis*
  • Child
  • Child, Preschool
  • Dermatology
  • Dermoscopy / methods
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Neurofibromatosis 1 / diagnosis*
  • Ophthalmology
  • Sampling Studies
  • Severity of Illness Index
  • Skin Pigmentation*

Supplementary concepts

  • Cafe au lait spots, multiple