Anemic Nevus in Neurofibromatosis Type 1

Abstract

Anemic nevus (AN) is a congenital-vascular anomaly of the skin. Although it is a benign and asymptomatic lesion, it could be a frequent ‘cutaneous finding' in neurofibromatosis type 1 (NF1). We performed a retrospective analysis to detect the prevalence of AN in all children with a presumptive diagnosis of NF1 treated in our center.

Nevus Anemicus: A Distinctive Cutaneous Finding in Neurofibromatosis Type 1

“…The subtle clinical appearance of NA and absence of symptoms can make its detection difficult, so it must be looked for purposely. Because NA is present early in life and its prevalence is higher than that of other classic NIH criteria for NF1, we think, in agreement with other authors , that NA may constitute a clinical diagnostic criterion for NF1 and that detection of NA may be of help in clinically distinguishing NF1 from other genodermatoses with CALS and freckling. Dermatologists, pediatricians, and physicians involved in the care of patients with suspected NF1 must be aware of this clinical sign as part of the routine physical examination and take into account its predictive diagnostic value.…”

“…NA did not receive further attention in the literature until 2013, when we and three other groups assessed large series of individuals with NF1 and associated NA . Not surprisingly, retrospective studies yielded much lower estimates than prospective assessments , probably because NA is clinically subtle and may be easily overlooked unless purposely searched for (Fig. ).…”

“…NA is rare in the general population but seems to have a much higher prevalence in patients with NF1. An association between NF1 and NA was first suggested in 1915 and was later confirmed .…”

“…NA is often multiple and the size is highly variable, ranging from pinpoint lesions to > 10 cm in diameter. Although NA can appear in otherwise healthy patients (11,13), it is usually solitary, and its association with other genodermatoses with CALS seems to be exceptional (9,10,14,15), indicating that NA might be a distinctive cutaneous finding in NF 1. The frequency of NA in the general population is probably much higher than stated in most textbooks, as people may not seek consultation because of its subtlety and lack of symptoms.…”

Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1

“…To the best of our knowledge, no patient with JXGs in association with MNF1 has been reported, and only one patient with MNF1 and NA has been published in the literature (14). In another study, 49 patients with MNF1 had no NA (15). Therefore the presence of JXGs and NA seems not to be as frequent in MNF1 as in NF1.…”