肋骨、骨盆区和脊柱脆性骨硬化：一份病例报告

封面

如何引用文章

全文:

详细

脆性骨硬化是一种在放射学检查中偶然发现的罕见遗传性良性骨发育不良。其特征是具有特殊的放射学表现：分布于整个骨骼的弥漫性、圆形或椭圆形、形状对称的骨硬化区。这些病变很容易与骨转移瘤相混淆，因此做出正确诊断至关重要。

本文报告了一例脆性骨硬化患者，其因一过性意识丧失前来我们门诊就诊，双腿或身体其他部位无任何麻木、麻刺感和虚弱。计算机断层成像扫描示多发小面积硬化性骨岛，散布于胸腰椎、肋骨、骨盆、骶骨和双侧股骨近端。锝-99m全身骨显像未检测到活性显著增加。患者被诊断为脆性骨硬化典型放射学表现，并接受随访。

作者简介

Maria Teresa Paparella

Department of Clinical and Experimental Medicine, Foggia University School of Medicine

Email: mt.paparella@gmail.com
ORCID iD: 0000-0003-2573-9509

MD

意大利, Viale L. Pinto 1, 71121, Foggia

Ilaria Gangai

Department of Clinical and Experimental Medicine, Foggia University School of Medicine

Email: hilary_ps@libero.it
ORCID iD: 0000-0001-9594-4810

MD

意大利, Viale L. Pinto 1, 71121, Foggia

Chiara Porro

Department of Clinical and Experimental Medicine, Foggia University School of Medicine

Email: chiara.porro@unifg.it
ORCID iD: 0000-0002-7526-6968

MD

意大利, Viale L. Pinto 1, 71121, Foggia

Laura Eusebi

Radiology Unit, Carlo Urbani

Email: lauraeu@virgilio.it
ORCID iD: 0000-0002-4172-5126

MD

意大利, Jesi

Ferdinando Silveri

Rheumatology Unit, University of Ancona

Email: fsilveri@libero.it
ORCID iD: 0000-0002-7847-245X

MD

意大利, Ancona

Aldo Cammarota

IRCCS-CROB

Email: aldo.cammarota@crob.it
ORCID iD: 0000-0003-4211-5140

MD

意大利, Rionero in Vulture

Giuseppe Guglielmi

Department of Clinical and Experimental Medicine, Foggia University School of Medicine; Radiology Unit, Barletta University Hospital

编辑信件的主要联系方式.
Email: giuseppe.guglielmi@unifg.it
ORCID iD: 0000-0002-4325-8330

MD, Professor

意大利, Viale L. Pinto 1, 71121 Foggia; Foggia

参考

  1. Negi RS, Manchanda KL, Sanga S, et al. Osteopoikilosis ― spotted bone disease. Med J Armed Forces India. 2013;69(2):196–198. doi: 10.1016/j.mjafi.2012.05.009
  2. Mahbouba J, Mondher G, Amira M, et al. Osteopoikilosis: a rare cause of bone pain. Caspian J Intern Med. 2015;6(3):177–179.
  3. Carpintero P, Abad JA, Serrano P, et al. Clinical features of ten cases of osteopoikilosis. Clin Rheumatol. 2004;23(6):505–508. doi: 10.1007/s10067-004-0935-2
  4. Tong EC, Samii M, Tchang F. Bone imagingas an aid for the diagnosis of osteopoikilosis. Clin Nucl Med. 1988;13(11):816–819. doi: 10.1097/00003072-198811000-00009
  5. Drouin CA, Grenon H. The association of Buschke–Ollendorf syndrome and nail-patella syndrome. J Am Acad Dermatol. 2002;46(4):621–625. doi: 10.1067/mjd.2002.120614
  6. Albers-Schönberg HE. Fortschr Roentgen. 1915;24(23):174.
  7. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004;36(11):1213–1218. doi: 10.1038/ng1453
  8. Gutierrez D, Cooper KD, Mitchell AL, et al. Novel somatic mutation in LEMD3 splice site results in Buschke–Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis. Pediatr Dermatol. 2015;32(5):e219–220. doi: 10.1111/pde.12634
  9. Vanhoenacker EM, De Beuckeleer LH, Wan Hul W, et al. Sclerosing bone dysplasias: genetic and radioclinicalfeatures. Eur Radiol. 2000;10(9):1423–1433. doi: 10.1007/s003300000495
  10. Amezcua-Guerra LM, Mansilla LJ, Fernandez TS, et al. Osteopoikilosis in an ancient skeleton: more than a medical curiosity. Clin Rheumatol. 2005;24(5):502–506. doi: 10.1007/s10067-004-1072-7
  11. Niwayama G. Enostosis, hyperstosis, and periostitis. In: Resnick D., ed. Diagnosis of Bone and Joint Disorders. Philadelphia: WB Saunders; 1988. Р. 4084–4088.
  12. Dahan S, Bonafé JL, Laroche M, et al. Iconography of Buschke–Ollendorff syndrome: X-ray computed tomography and nuclear magnetic resonance of osteopoikilosis. Ann Dermatol Venereol. 1989;116(3):225–230.
  13. Mungovan JA, Tung GA, Lambiase RE, et al. Tc-99m MDP uptake in osteopoikilosis. Clin Nucl Med. 1994;19(1):6–8. doi: 10.1097/00003072-199401000-00002

补充文件

附件文件
动作
1. JATS XML
下载
2. 图1穿过胸椎（a）和腰椎（b）脊柱的横截面计算机断层扫描。显示棘突和椎弓根内有大量、清晰、均匀的圆形高密度病灶。

下载 (91KB)
索引源数据
3. 图2穿过第七根肋骨的横截面计算机断层扫描。显示大量高密度病变，边缘清晰。大小以毫米为单位。

下载 (42KB)
索引源数据
4. 图3穿过骶髂关节的横截面计算机断层扫描。显示沿骶骨、髋骨和骶髂关节对称分布的小而硬化的圆形阴影。

下载 (69KB)
索引源数据
5. 图4穿过股骨头的横截面计算机断层扫描。显示大量高密度病变，符合股骨头脆性骨硬化，病变边缘清晰。大小以毫米为单位。

下载 (62KB)
索引源数据

版权所有 © Paparella M., Gangai I., Porro C., Eusebi L., Silveri F., Cammarota A., Guglielmi G., 2022

Creative Commons License
此作品已接受知识共享署名-非商业性使用-禁止演绎 4.0国际许可协议的许可。

##common.cookie##