TY - JOUR
T1 - Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules
AU - Ben-Shachar, Shay
AU - Dubov, Tom
AU - Toledano-Alhadef, Hagit
AU - Mashiah, Jacob
AU - Sprecher, Eli
AU - Constantini, Shlomi
AU - Leshno, Moshe
AU - Messiaen, Ludwine M.
N1 - Publisher Copyright:
© 2017 American Academy of Dermatology, Inc.
PY - 2017/6
Y1 - 2017/6
N2 - 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.
AB - 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.
KW - algorithm
KW - café-au-lait macules
KW - neurofibromatosis type 1
KW - prediction
UR - http://www.scopus.com/inward/record.url?scp=85015086658&partnerID=8YFLogxK
U2 - 10.1016/j.jaad.2017.02.027
DO - 10.1016/j.jaad.2017.02.027
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C2 - 28318682
AN - SCOPUS:85015086658
SN - 0190-9622
VL - 76
SP - 1077-1083.e3
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 6
ER -