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最初在基层医疗单位诊断出的颅面部多骨型纤维发育不良

Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit.

作者信息

Cruz-Ferreira Antonio Miguel

机构信息

Mealhada Primary Health Care Unit, Mealhada, Portugal.

Faculty of Health Sciences, University of Beira Interior, Covilha, Portugal.

出版信息

Korean J Fam Med. 2019 Jan;40(1):58-60. doi: 10.4082/kjfm.17.0129. Epub 2018 Jul 6.

DOI:10.4082/kjfm.17.0129
PMID:29976033
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6351795/
Abstract

Fibrous dysplasia (FD) is a non-malignant bone tumor that typically behaves as a slow and indolent growing mass lesion. We report the case of a female patient presenting with headache and facial deformity and later diagnosed with polyostotic fibrous dysplasia (PFD). A 29-year-old woman visited Mealhada Primary Health Care Unit complaining of headache, nasal congestion, and hyposmia for several weeks. She also presented with facial deformity and painful swelling of the upper left orbit. X-ray imaging revealed a suspicious opacity in the left frontal sinus and a right shift of the nasal septum. Computed tomography and bone scintigraphy later confirmed a tumor involving the ethmoid and frontal bone. The patient was referred to the neurosurgery and otorhinolaryngology departments of a central hospital and the suspected diagnosis of PFD was confirmed. A watchful waiting approach with regular imaging screenings was proposed and accepted by the patient, who is now free of symptoms and more acceptant of the benign condition of her tumor. With this case, we aim to make family physicians more aware of this rare but relevant condition that can be difficult to diagnose. FD is a rare but benign tumor that occurs mainly in adolescents and young adults. Symptoms depend on the location and type of the tumor and include facial deformity, vision changes, nasal congestion, and headache. No clear guidelines exist for its treatment, and options include monitoring the progression of the tumor, in addition to medical or surgical approaches.

摘要

骨纤维异常增殖症(FD)是一种非恶性骨肿瘤,通常表现为生长缓慢、惰性生长的肿块病变。我们报告了一例女性患者,该患者最初表现为头痛和面部畸形,后来被诊断为多骨型骨纤维异常增殖症(PFD)。一名29岁女性前往梅亚达初级卫生保健单位就诊,主诉头痛、鼻塞和嗅觉减退数周。她还出现了面部畸形以及左上眼眶疼痛性肿胀。X线成像显示左额窦有可疑的不透光区,鼻中隔右移。计算机断层扫描和骨闪烁显像后来证实肿瘤累及筛骨和额骨。该患者被转诊至一家中心医院的神经外科和耳鼻咽喉科,PFD的疑似诊断得到确诊。建议采用密切观察并定期进行影像学检查的方法,该患者接受了此建议,目前无症状,且更能接受其肿瘤的良性状况。通过这个病例,我们旨在让家庭医生更加了解这种罕见但相关的疾病,其可能难以诊断。骨纤维异常增殖症是一种罕见的良性肿瘤,主要发生在青少年和年轻人中。症状取决于肿瘤的位置和类型,包括面部畸形、视力变化、鼻塞和头痛。对于其治疗尚无明确的指南,治疗选择包括监测肿瘤进展,以及药物或手术治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e28d/6351795/a0cdce760e60/kjfm-17-0129f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e28d/6351795/aa96839e23fd/kjfm-17-0129f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e28d/6351795/a0cdce760e60/kjfm-17-0129f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e28d/6351795/aa96839e23fd/kjfm-17-0129f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e28d/6351795/a0cdce760e60/kjfm-17-0129f2.jpg

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本文引用的文献

1
Fibrous dysplasia and cherubism.纤维性发育不良和 cherubism( cherubism 可能是一种特定的医学病症名称,可音译为“克-布二氏病”,但在医学领域可能存在更专业的术语,若有特定要求可进一步查阅相关医学资料确定其准确译名 )。
Indian J Plast Surg. 2015 Sep-Dec;48(3):236-48. doi: 10.4103/0970-0358.173101.
2
Clinical guidelines for the management of craniofacial fibrous dysplasia.颅面纤维结构不良管理的临床指南。
Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S2. doi: 10.1186/1750-1172-7-S1-S2.
3
Spontaneous conversion of fibrous dysplasia into osteosarcoma.骨纤维发育不良自发转化为骨肉瘤。
J Craniofac Surg. 2011 May;22(3):959-61. doi: 10.1097/SCS.0b013e31820fe2bd.