Multiple Cafe au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1
School of Medicine; Department of Pediatrics, Division of Dermatology; Department of Pediatrics, Division of Genetics; Department of Medicine, Division of Dermatology
Dermatology | Pediatrics | Skin and Connective Tissue Diseases
BACKGROUND: The presence of six or more cafe 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.
DOI of Published Version
Pediatr Dermatol. 2016 Sep;33(5):526-9. doi: 10.1111/pde.12936. Epub 2016 Jul 28. Link to article on publisher's site
St. John J, Summe HS, Csikesz C, Wiss K, Hay BN, Belazarian L. (2016). Multiple Cafe au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1. Pediatric Publications and Presentations. https://doi.org/10.1111/pde.12936. Retrieved from https://escholarship.umassmed.edu/peds_pp/93