■肥大细胞增多症的特征是肥大细胞在各种器官中的克隆性增殖,并且可以有单独的皮肤或全身受累。儿童期发病的肥大细胞增多症(COM)通常是皮肤性的,并自发消退,而成人发病的肥大细胞增多症(AOM)通常持续存在并伴有全身受累。来自印度的COM数据有限。
■阐明COM的临床病理特征。
■我们对所有经组织学证实为COM(≤16岁)的患者进行了回顾性图表回顾,向皮肤科提交超过11年(2009年1月至2019年12月)。我们收集了人口统计数据,临床特征(形态学,范围,分布),实验室调查,组织病理学发现,成像(超声腹部),c-KIT突变结果,如果可用,和其他相关的异常,并根据WHO对肥大细胞增多症的分类进行分组。
■在66例COM患者中(M:F-1.6:1),89.4%在2岁之前发病。亚型为:斑丘疹性皮肤肥大细胞增多症(MPCM:44,66.7%);皮肤肥大细胞瘤(MOS:19,28.8%);弥漫性皮肤肥大细胞增多症(DCM:2,3%)和惰性系统性肥大细胞增多症(ISM:1,1.5%)。在29例(43.9%)患者中观察到起泡,在47例(71.2%)患者中出现达里尔征。9/21(42.9%)患者血清类胰蛋白酶升高,但没有人出现系统性肥大细胞增多症.3名患者有c-KIT突变(2名外显子8和1名外显子17)。大多数患者对症治疗,ISM患者使用伊马替尼改善。
■MPCM是COM的最常见变体,大多数患者在2年之前就有疾病发作。总的来说,COM预后良好,罕见的全身受累,减轻了对儿童进行常规评估的需要。
UNASSIGNED: Mastocytosis is characterized by clonal proliferation of mast cells in various organs and can have isolated cutaneous or systemic involvement. Childhood-onset mastocytosis (COM) is usually cutaneous and regresses spontaneously, while adult-onset mastocytosis (AOM) is often persistent with systemic involvement. There is limited data on COM from India.
UNASSIGNED: To elucidate the clinicopathological profile of COM.
UNASSIGNED: We conducted a retrospective chart review of all the patients with histologically proven COM (≤16 years), presenting over 11 years (January 2009 to December 2019) to the Dermatology Department. We compiled the demographic data, clinical characteristics (morphology, extent, distribution), laboratory investigations, histopathology findings, imaging (ultrasound abdomen), c-KIT mutation results, where available, and other associated abnormalities, and grouped them according to the WHO classification for mastocytosis.
UNASSIGNED: Among the 66 patients with COM (M: F-1.6:1), 89.4% had onset before 2 years of age. The subtypes were: maculopapular cutaneous mastocytosis (MPCM: 44, 66.7%); mastocytoma of the skin (MOS: 19, 28.8%); diffuse cutaneous mastocytosis (DCM: 2, 3%) and indolent systemic mastocytosis (ISM: 1, 1.5%). Blistering was observed in 29 (43.9%) and Darier sign was elicited in 47 (71.2%) patients. Serum tryptase was elevated in 9/21 (42.9%) patients, but none had systemic mastocytosis. Three patients had c-KIT mutations (two in exon 8 and one in exon 17). Most patients were managed symptomatically and the patient with ISM improved with imatinib.
UNASSIGNED: MPCM is the most common variant of COM and most patients had a disease onset before 2 years. Overall, COM had a good prognosis with rare systemic involvement, mitigating the need for extensive evaluation routinely in children.