TY - JOUR AB - 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. AD - Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China AU - Zhang,Jia AU - Li,Ming AU - Yao,Zhirong DA - 2016/11/01 DO - 10.3892/mmr.2016.5760 EP - 4029 IS - 5 JO - Mol Med Rep KW - café‑au‑lait macules neurofibromatosis type 1 KITLG/c‑Kit Ras/MAPK gene screening PY - 2016 SN - 1791-2997 1791-3004 SP - 4023 ST - Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review) T2 - Molecular Medicine Reports TI - Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review) UR - https://doi.org/10.3892/mmr.2016.5760 VL - 14 ER -