St John Jessica, Summe Heather, Csikesz Courtney, Wiss Karen, Hay Beverly, Belazarian Leah
University of Massachusetts Medical School, Worcester, Massachusetts.
Division of Dermatology, Department of Medicine, University of Massachusetts Medical School and UMass Memorial Health Care, Worcester, Massachusetts.
Pediatr Dermatol. 2016 Sep;33(5):526-9. doi: 10.1111/pde.12936. Epub 2016 Jul 28.
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.
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.
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).
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.
六个或更多的咖啡牛奶斑（CAL）是诊断1型神经纤维瘤病（NF-1）的一项标准。患有多个CAL斑的儿童常被转诊至皮肤科医生处进行NF-1筛查。本病例系列的目的是描述一组肤色白皙、红头发或金发且有多个羽毛状CAL斑的儿童的特征，这些儿童在最近一次评估时不符合NF-1的诊断标准。
我们对在我们儿科皮肤科诊所就诊的八名患者进行了病历回顾，这些患者之前被确定有多个CAL斑且无其他NF-1的体征或症状。
我们描述了八名年龄在2至9岁之间的患者，他们有多个边界呈羽毛状的不规则CAL斑，且无其他NF-1的体征或症状。这些患者大多数是红头发或金发，且肤色白皙。所有患者均在我们的儿科皮肤科诊所接受了评估，部分患者还由遗传学家进行了评估。每位患者的CAL斑数量从5个到15个不等（平均9.4个，中位数9个）。
尽管未进行基因检测，但有一部分儿童，其中许多肤色白皙、红头发或金发，有数量增多的羽毛状CAL斑，且似乎不太可能发展为NF-1。认识到这些患者CAL斑的良性性质很重要，以便能够给出适当的筛查和随访建议。
