Clinical manifestation and diagnostic challenges of SAPHO Syndrome: a case report
Article Sidebar
Main Article Content
Abstract
The SAPHO syndrome, characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis, is a rare disease of unknown prevalence and probably underdiagnosed. Its diagnosis can be confirmed by correlating the clinical symptoms with the radiological findings. However, it is challenging to do so since the clinical manifestations of this disease are diverse, with no confirmatory serological marker, and the radiological alterations can be nonspecific. This study is aimed to report the case of a patient with SAPHO syndrome, with an unusual clinical presentation, and the challenges faced to establish the diagnosis.
Article Details
This work is licensed under a Creative Commons Attribution 4.0 International License.
References
Liu S, Tang M, Cao Y, Li C. Synovitis, acne, pustulosis, hypertostosis and osteitis syndrome: review and update. SAGE journals. 2020 May 12;12:1–14. doi: 10.1177/1759720X20912865.
Govoni M, Colina M, Massara A, Trotta F. “SAPHO syndrome and infections.” Autoimmun Rev. 2009 Jan;8(3):256–9. doi: 10.1016/j.autrev.2008.07.030.
Colina M, Trotta F. Clinical and Radiological Characteristics of SAPHO Syndrome. Curr Rheumatol Rev. 2013;9(1):22–7. doi: 10.2174/1573397111309010007.
Sallés M, Olivé A, Perez-Andres R, Holgado S, Mateo L, Riera E, Tena X. The SAPHO syndrome: A clinical and imaging study. Clin Rheumatol. 2011 Feb;30(2):245–9. doi: 10.1007/s10067-010-1560-x.
Rukavina I. SAPHO syndrome: a review. J Child Orthop. 2015 Feb;9(1):19–27. doi: 10.1007/s11832-014-0627-7.
Cianci F, Zoli A, Gremese E, Ferraccioli G. Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment. Clin Rheumatol. 2017 Jul;36(9):2151–8. doi: 10.1007/s10067-017-3751-1.
Gonçalves Guerra J, Ayres Corrêa Lima F, Maria Gonçalves Macedo L, Antônio Lopes Rocha A, Luiz Fernandes J. SÍNDROME SAPHO: ENTIDADE RARA OU SUBDIAGNOSTICADA?*. Radiol Bras. 2005;38:265–71.
Earwaker JWS, Cotten A. SAPHO: syndrome or concept? Imaging findings. Skeletal Radiol. 2003 Jun 29;32(6):311–27. doi: 10.1007/s00256-003-0629-x.
Hurtado-Nedelec M, Chollet-Martin S, Chapeton D, Hugot JP, Hayem G, Gérard B. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. J Rheumatol. 2010 Feb;37(2):401–9. doi: 10.3899/jrheum.090456.
Wollheim FA. The SAPHO syndrome and genetics - discoveries in need of replication. Curr Rheumatol Rev. 2013;9(1):8–10. doi: 10.2174/1573397111309010003.