Jenkinson Helena A, Lundgren Ashley D, Carter Melody C, Diaz Lucia Z, Levy Moise L
Department of Dermatology, McGovern Medical School at The University of Texas at Houston, Houston, Texas.
Department of Internal Medicine (Dermatology), Dell Medical School at The University of Texas at Austin, Austin, Texas.
Pediatr Dermatol. 2019 Jul;36(4):486-489. doi: 10.1111/pde.13801. Epub 2019 Mar 3.
Mastocytosis is an accumulation of clonal mast cells within tissues, commonly caused by mutations in the KIT proto-oncogene. This report describes the management of a neonate with diffuse cutaneous mastocytosis (DCM) caused by a rare activating KIT mutation, specifically internal tandem duplication of the Ala502Tyr503 pair on exon 9, and reviews current data regarding work-up of DCM in pediatric patients.
肥大细胞增多症是指克隆性肥大细胞在组织内积聚，通常由KIT原癌基因突变引起。本报告描述了一名患有弥漫性皮肤肥大细胞增多症（DCM）的新生儿的治疗情况，该病症由一种罕见的KIT激活突变导致，具体为第9外显子上Ala502Tyr503对的内部串联重复，并回顾了有关儿科患者DCM检查的当前数据。
