Li Yanfang, Li Xiaoying, Liu Xianghong, Kang Lili, Liu Xinjie
Department of Neonatology, Qilu Children's Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Department of Pediatrics, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
J Int Med Res. 2020 Sep;48(9):300060520952621. doi: 10.1177/0300060520952621.
Mastocytosis is an accumulation of clonal mast cells within tissues and it is most commonly caused by an activating mutation in the gene. In this study, we report a neonatal case who presented with diffuse cutaneous mastocytosis (CM) at birth. In China, nine other cases of neonatal-onset CM have been reported in the literature since 2006. In those cases, diffuse CM and urticaria pigmentosa were the main symptoms, and mutations in exon 17 at codon 816 in KIT were identified.
肥大细胞增多症是克隆性肥大细胞在组织内的积聚，最常见的原因是该基因的激活突变。在本研究中，我们报告了1例出生时即表现为弥漫性皮肤肥大细胞增多症（CM）的新生儿病例。自2006年以来，中国文献中还报道了其他9例新生儿期发病的CM病例。在这些病例中，主要症状为弥漫性CM和色素性荨麻疹，并在KIT基因第816密码子的第17外显子中发现了突变。
