The Natural History of Pediatric Onset Cutaneous and Systemic Mastocytosis

该方案旨在评估患有更广泛疾病或系统性肥大细胞增多症的儿童，并更好地了解那些疾病未消退或系统性肥大细胞增多症进展的儿童。对他们的疾病进行分类将加强他们目前的管理，并更清楚地确定预后。该方案还跟踪了先前LAD方案中患有皮肤病的儿童和有一个以上受影响儿童的家庭，以确定可能的进展标志物。所有患者目前情况稳定，没有出现任何不良事件。自方案批准以来，共有41例受试者累积了儿童型肥大细胞增多症的所有变体：色素性荨麻疹、弥漫性皮肤肥大细胞增多症、肥大细胞瘤和惰性全身性肥大细胞增多症。 我们从方案中招募的受试者中收集的信息为整个社区提供了急需的信息。该方案将有助于确定可能与未消退疾病相关的因素。此外，在那些患有惰性系统性肥大细胞增多症的儿童中，该方案将确定疾病进展至成年的预后标志物。

The protocol is designed to evaluate children with more extensive disease or systemic mastocytosis and to better understand those children that do not resolve their disease or progression of systemic mastocytosis. Classification of their disease will augment their current management and more clearly define the prognosis. The protocol also follows children with cutaneous disease from prior LAD protocols and families with more than one affected child to identify possible markers of progression. All patients are currently stable and have not had any adverse events. A total of 41 subjects were accrued since protocol approval with all variants of pediatric-onset mastocytosis: urticaria pigmentosa, diffuse cutaneous mastocytosis, mastocytoma, and indolent systemic mastocytosis. The information we are collecting from subjects enrolled in the protocol provides much needed information for the community at large. This protocol will help to identify factors that may be associated with disease that does not resolve. Moreover, in those children with indolent systemic mastocytosis, this protocol will identify prognostic markers for disease progression into adulthood.