Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review)

Zhang,Jia; Li,Ming; Yao,Zhirong

doi:10.3892/mmr.2016.5760

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review)

Authors:
- Jia Zhang
- Ming Li
- Zhirong Yao
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Affiliations: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China
Published online on: September 22, 2016 https://doi.org/10.3892/mmr.2016.5760
Pages: 4023-4029
Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone. Furthermore, certain syndromes are clinically overlapping and molecular testing is a vital diagnostic method. The present review aims to provide an overview of these ‘NF1‑like’ inherited diseases and recommend a cost‑effective strategy for making a clear diagnosis among these diseases with an ambiguous borderline.

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