显示罕见的kerubism随机复发病例

Q3 Arts and Humanities Collegium Antropologicum Pub Date : 2022-01-01 DOI:10.5671/ca.46.2.9
Vjosa Hamiti Krasniqi, David Stubljar, Jehona Ahmedi, Aida Rexhepi, Zana Agani, Mergime Prekazi-Loxha
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引用次数: 0

摘要

小娃娃病是一种罕见的儿童骨发育不良,其特征是仅局限于颌骨的对称骨吸收,诊断为充满富含巨细胞的柔软纤维组织的骨病变,可扩大并导致严重的面部畸形。大多数患者在编码SH3BP2的基因中存在种系突变,SH3BP2是一种参与适应性和先天免疫反应的信号转导蛋白。治疗取决于疾病的临床病程。目前的病例报告提出了一个没有家族史的年轻患者,在上颌骨额区囊肿,囊肿复发,是一个较少记录的,罕见的病例。当时的组织学发现为巨细胞肉芽肿,后来为灰色肿瘤。由于颌骨中存在巨细胞的其他病理发现,我们作为外科医生很难诊断小天使病。
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Prikaz rijetkog slučaja sporadične ponovne pojave kerubizma
Cherubism is a rare bone dysplasia in children characterized by symmetrical bone resorption limited only to the jaws and diagnosed as bone lesions filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. Most patients have germline mutations in the gene encoding SH3BP2, a signaling adaptor protein involved in adaptive and innate immune responses. Treatment depends on the clinical course of the disease. The current case report presents a young patient with cysts in frontal region of maxilla without family history, that had recurrences of cysts, and is representing a less documented, rare case. Histological finding at that time was indicating a giant cell granuloma and later a grey tumor. Due to the existence of other pathological findings in the jaws with the presence of giant cells, we had difficulties to diagnose cherubism as surgeons.
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来源期刊
Collegium Antropologicum
Collegium Antropologicum Social Sciences-Anthropology
CiteScore
0.40
自引率
0.00%
发文量
11
期刊介绍: International journal Collegium Antropologicum is the official journal of the Croatian Antropological Society and is jointly published by: Croatian Anthropological Society Croatian Association of Medical Anthropology - Croatian Medical Association Department of Natural Sciences, Anthropological Centre and the Scientific Council for Anthropological Research of the Croatian Academy of Sciences and Arts. With the numerous international recognition of co-operative experts, the Journal represents a relevant reference source in the fields of cultural and biological anthropology, sociology, ethnology, psychology, demography, history, archaeology, genetics, biomedicine, human ecology, nutrition and other fields related to multidisciplinary character of anthropology.
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