A Rare Case of Aggressive Systemic Mastocytosis With Skeletal Osteosclerotic Lesions on Presentation: A Diagnostic Conundrum.

一例罕见的进行性系统性肥大细胞增生症伴骨骼骨硬化性病变 ： 诊断难题。

• 发表时间: Dec 2022
• 来源期刊: Cureus
• DOI: 10.7759/cureus.32135
• PMID: 36601202
• 文章类型: Case Reports
• 作者列表: Ghorpade R,Tissavirasingham F,Vennepureddy A

关键词: c-kit mutation; computed tomography abdomen and pelvis; mast cells; osteosclerotic lesions; systemic mastocytosis

Abstract

Systemic mastocytosis (SM) is a heterogeneous group of disorders caused by mast cell proliferation. SM often presents with non-specific symptoms making it a diagnostic challenge. Moreover, presentation with bone involvement is highly uncommon. Here, we report a rare case of SM in a 68-year-old female who initially presented with gastrointestinal symptoms and was later found to have sclerotic bone lesions on imaging. This case highlights an unusual presentation of SM, informing clinicians of the importance of keeping this disease process on the differential list of diagnostic conundrums.

摘要

系统性肥大细胞增多症（SM）是由肥大细胞增殖引起的一组异质性疾病。SM通常表现为非特异性症状，使其成为诊断挑战。此外，骨受累的表现非常罕见。这里,我们报告了一例罕见的SM病例,患者为1名68岁女性,最初出现胃肠道症状,后来在影像学检查中发现有硬化性骨病变.这个案例突出了SM的不寻常表现，告知临床医生将此疾病过程保留在诊断难题的差异列表中的重要性。