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伴有运动和智力发育迟缓的小儿皮肤肥大细胞增多症

Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay.

作者信息

Watanabe Yusuke, Morichi Shinichiro, Takamatsu Tomoko, Ito Tomonobu, Yamanaka Gaku

机构信息

Pediatrics and Adolescent Medicine, Tokyo Medical University, Tokyo, JPN.

Dermatology, Tokyo Medical University, Tokyo, JPN.

出版信息

Cureus. 2023 Feb 2;15(2):e34536. doi: 10.7759/cureus.34536. eCollection 2023 Feb.

Abstract

Pediatric mastocytosis is a relatively rare disorder and most commonly occurs as isolated cutaneous lesions. Although autism spectrum disorders have been reported to be associated with mastocytosis, no clear association between mastocytosis and motor and intellectual delay has been reported with the exception of the case that detected de novo monoallelic mutations in the gene. Herein, we describe the case of a Japanese male pediatric patient aged two years and six months who had cutaneous mastocytosis accompanied by motor and intellectual delay without the presence of mutation.

摘要

小儿肥大细胞增多症是一种相对罕见的疾病,最常见的表现为孤立性皮肤损害。尽管有报道称自闭症谱系障碍与肥大细胞增多症有关,但除了在该基因中检测到新生单等位基因突变的病例外,尚未有关于肥大细胞增多症与运动和智力发育迟缓之间明确关联的报道。在此,我们描述了一名2岁6个月大的日本男性小儿患者的病例,该患者患有皮肤肥大细胞增多症,并伴有运动和智力发育迟缓,但未检测到该基因突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e90c/9981483/4eb7e7ffd50e/cureus-0015-00000034536-i01.jpg

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