{"title":"显示罕见的kerubism随机复发病例","authors":"Vjosa Hamiti Krasniqi, David Stubljar, Jehona Ahmedi, Aida Rexhepi, Zana Agani, Mergime Prekazi-Loxha","doi":"10.5671/ca.46.2.9","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":35544,"journal":{"name":"Collegium Antropologicum","volume":"64 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prikaz rijetkog slučaja sporadične ponovne pojave kerubizma\",\"authors\":\"Vjosa Hamiti Krasniqi, David Stubljar, Jehona Ahmedi, Aida Rexhepi, Zana Agani, Mergime Prekazi-Loxha\",\"doi\":\"10.5671/ca.46.2.9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":35544,\"journal\":{\"name\":\"Collegium Antropologicum\",\"volume\":\"64 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Collegium Antropologicum\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5671/ca.46.2.9\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Arts and Humanities\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Collegium Antropologicum","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5671/ca.46.2.9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Arts and Humanities","Score":null,"Total":0}
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.
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.