Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules - 14/12/17
, Tom Dubov, BSc d, Hagit Toledano-Alhadef, MD a, b, d, Jacob Mashiah, MD c, d, Eli Sprecher, MD, PhD c, d, Shlomi Constantini, MD, MSc a, d, Moshe Leshno, MD, PhD d, Ludwine M. Messiaen, PhD eAbstract |
Background |
Although isolated cafe-au-lait macules (CALMs) are a common skin finding, they are an early feature of neurofibromatosis type 1 (NF1).
Objective |
We sought to develop an algorithm determining the risk of children with CALMs to have constitutional NF1.
Methods |
We conducted a retrospective study of patients with isolated CALMs. Diagnosis of NF1 was based on detecting NF1 mutation in blood or fulfilling clinical criteria.
Results |
In all, 170 of 419 (41%) and 21 of 86 (24%) children with isolated CALMs who underwent molecular testing and clinical follow-up, respectively, were given a diagnosis of NF1. Presence of fewer than 6 CALMs at presentation or atypical CALMs was associated with not having NF1 (P < .001). An algorithm based on age, CALMs number, and presence of atypical macules predicted NF1 in both cohorts. According to the algorithm, children older than 29 months with at least 1 atypical CALM or less than 6 CALMs have a 0.9% (95% confidence interval 0%-2.6%) risk for constitutional NF1 whereas children younger than 29 months with 6 or more CALMs have a high risk (80.4%, 95% confidence interval 74.6%-86.2%).
Limitations |
The study was designed to detect constitutional NF1 and not NF1 in mosaic form.
Conclusions |
A simple algorithm enables categorization of children with isolated CALMs as being at low or high risk for having NF1.
Le texte complet de cet article est disponible en PDF.Key words : algorithm, café-au-lait macules, neurofibromatosis type 1, prediction
Abbreviations used : AUC, CALM, CI, NF1, NIH
Plan
| Funding sources: None. |
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| Conflicts of interest: None declared. |
Vol 76 - N° 6
P. 1077 - juin 2017 Retour au numéro
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