Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1
| Autor: | Jessica St. John, Courtney R. Csikesz, Beverly N. Hay, Karen Wiss, Heather S. Summe, Leah Belazarian |
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| Rok vydání: | 2016 |
| Předmět: |
Male
medicine.medical_specialty Neurofibromatosis 1 Dermoscopy Skin Pigmentation Dermatology Ambulatory Care Facilities Severity of Illness Index Sampling Studies Diagnosis Differential 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Chart review Severity of illness medicine Humans Neurofibromatosis Child Genetic testing Pediatric dermatology clinic Spots medicine.diagnostic_test business.industry Cafe-au-Lait Spots Multiple cafe-au-lait spots medicine.disease Ophthalmology Child Preschool Pediatrics Perinatology and Child Health Female business Blond hair |
| Zdroj: | Pediatric Dermatology. 33:526-529 |
| ISSN: | 0736-8046 |
| DOI: | 10.1111/pde.12936 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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