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Diagnostic value of multiple café‐au‐lait macules for neurofibromatosis 1 in Chinese children
Author(s) -
Yao Ruen,
Wang Lili,
Yu Yongguo,
Wang Jian,
Shen Yiping
Publication year - 2016
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13169
Subject(s) - neurofibromatosis , medicine , café au lait spot , pediatrics , pathology
Abstract Neurofibromatosis 1 ( NF 1) is a common autosomal dominant condition caused by mutations in the NF 1 gene. The appearance of multiple café‐au‐lait macules is an early sign of the condition, which often alert physicians to follow up and further examine the patient for the possibility of NF 1. In order to determine the predictive value of multiple café‐au‐lait macules at early age for NF 1 in Chinese patients, we recruited 19 children who shared the common sign of multiple café‐au‐lait macules from a general pediatric clinic in Shanghai. All the patients were clinically evaluated following the National Institutes of Health criteria for NF 1 and molecular tested for sequence variants and copy number changes. Nine children met the clinical diagnostic criteria of NF 1, and molecular tests confirmed all nine patients with pathogenic variants including two genomic deletions, two novel frame‐shift variants, four novel nonsense and a splicing variants. In addition, four children who did not meet the diagnostic criteria were also found to carry pathogenic NF 1 variants. Overall, 68.4% (13/19) of children with café‐au‐lait macules and various other clinical presentations were molecularly confirmed with NF 1. This study demonstrated that the majority of Chinese children with multiple café‐au‐lait macules who came to seek for medical attention had NF 1. Molecular testing is necessary to be used as an adjunct and sometimes as the main tool for confirming and diagnosing children of NF 1 at early age.