Multiple Cafe au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1
Authors
St. John, JessicaSumme, Heather S.
Csikesz, Courtney
Wiss, Karen
Hay, Beverly N.
Belazarian, Leah
UMass Chan Affiliations
Department of Medicine, Division of DermatologyDepartment of Pediatrics, Division of Genetics
Department of Pediatrics, Division of Dermatology
School of Medicine
Document Type
Journal ArticlePublication Date
2016-09-01
Metadata
Show full item recordAbstract
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.Source
Pediatr Dermatol. 2016 Sep;33(5):526-9. doi: 10.1111/pde.12936. Epub 2016 Jul 28. Link to article on publisher's siteDOI
10.1111/pde.12936Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43783PubMed ID
27469520Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1111/pde.12936