Pathology, Children Hospital of Michigan, Detroit MI, USA.
Fetal Pediatr Pathol. 2022 Oct;41(5):759-770. doi: 10.1080/15513815.2021.1978602. Epub 2021 Sep 20.
CRMO is a sterile auto inflammatory bone disease that affects the pediatric population. Recently, single gene mutations in LPIN2, DIRA, and IL1RN have been reported in murine models of CRMO.
The medical records and histopathological slides of twelve patients were reviewed.
The diagnosis was determined by multiple lesions, imaging, negative cultures, bone biopsy, and lack of antibiotic response. Biopsy showed early neutrophilic infiltrates, and older lesions showed lymphoplasmacytic infiltrates and fibrosis. Patients were treated with anti-inflammatory medication with some lesions completely resolving.
Bone biopsy aids the diagnosis of CRMO in correlation with clinical presentation, imaging, and culture findings. Our findings indicate the kinetics of CRMO is not well defined and the fibrosis may be reached after months, in contrast to the previously reported several years. We hope that these genetic mutations can be further studied in human models to describe the genetics behind CRMO.
CRMO 是一种无菌性自身炎症性骨病,影响儿科人群。最近,在 CRMO 的小鼠模型中已经报道了 LPIN2、DIRA 和 IL1RN 的单基因突变。
回顾了 12 名患者的病历和组织病理学幻灯片。
通过多部位病变、影像学、阴性培养、骨活检和抗生素反应缺乏来确定诊断。活检显示早期中性粒细胞浸润,较旧的病变显示淋巴浆细胞浸润和纤维化。患者接受抗炎药物治疗,一些病变完全消退。
骨活检有助于在与临床表现、影像学和培养结果相关的情况下诊断 CRMO。我们的发现表明,CRMO 的动力学尚未明确,纤维化可能在数月后发生,而不是以前报道的数年。我们希望这些基因突变能够在人类模型中进一步研究,以描述 CRMO 背后的遗传学。