Original articleNevus anemicus in neurofibromatosis type 1: A potential new diagnostic criterion
Section snippets
Patients
This prospective case-control study was conducted from January 2007 to September 2012 in 2 French university hospital centers. All patients were being followed up for significant CALMs, defined as: (1) more than 3 with diameter 0.5 cm or larger in infants; and (2) 6 or more with diameter 0.5 cm or larger in children and 1.5 cm or larger in adults. We chose more than 3 CALMs for infants because CALMS is the first clinical sign of NF1 and more than 3 CALMs are rare (<0.3%) in the absence of an
Results
In all, 210 cases were enrolled in the study (Fig 1). A total of 151 patients from 123 families (group 1) were given the diagnosis of NF1 according to NIH criteria, excluding the CALMs/intertriginous freckling association in the absence of a pathogenic NF1 germline mutation. They were matched with 302 control subjects. In all, 59 patients (group 2) did not match group 1/NF1 criteria, including 26 patients with a diagnosed genodermatosis and 33 patients with an undiagnosed genodermatosis.
Discussion
We present data demonstrating a high prevalence of NA in patients with NF1 (51%) compared with control subjects (2%). The low NA prevalence in our control group is similar to the 1% prevalence estimated in a control population of 298 dermatology patients.28 Although NA is noted as a distinctive clinical feature of NF1 in several reviews,1, 7 few case reports describe NA in patients with NF1.8, 9 The prevalence of NA in NF1 has probably been underestimated for several reasons. First, careful
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2022, Actas Dermo-SifiliograficasUpdated Approach to Patients with Multiple Café au Lait Macules
2022, Dermatologic ClinicsCitation Excerpt :Although not diagnostic criteria, other clues include macrocephaly, scoliosis, and short stature for age.61 Juvenile xanthogranuloma (JXG) and nevus anemicus have been reported in 10% and 51% of patients with NF1, respectively.62,63 Some experts argued for the inclusion of JXG and nevus anemicus in the NIH diagnostic criteria.64
Phakomatoses
2019, Dermatologic ClinicsNevus anemicus and RASopathies
2018, JAAD Case ReportsCitation Excerpt :Anemic nevi were suggested as an additional diagnostic marker of NF1, facilitating differentiation from other genodermatoses with café au lait macules (CALMs) and lentigines.1-3 Anemic nevi are congenital pale macules or patches, which become more prominent by warming or rubbing of the skin and disappear with diascopy or wood lamp examination.1,2 In a review of the clinical features of 159 patients with Legius syndrome (LS), anemic nevi were not reported4; however, they can easily be overlooked if not specifically searched for.
Funding sources: None.
Conflicts of interest: None declared.