Maranini Beatrice, Ciancio Giovanni, Rinaldi Rosa, Borrelli Massimo, Pugliatti Maura, Govoni Marcello
Rheumatology Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Pathology Unit, ASST Mantova, Ospedale Carlo Poma, Mantova, Italy.
Clin Med Insights Arthritis Musculoskelet Disord. 2022 Sep 7;15:11795441221118918. doi: 10.1177/11795441221118918. eCollection 2022.
SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare syndrome mainly characterized by cutaneous and osteoarticular manifestations. The most typical osteoarticular manifestations are localized to the anterior chest wall and include a usually noninfectious osteitis, hyperostosis, and synovitis of the sternoclavicular joints. However, clinical presentation of SAPHO syndrome can be quite heterogeneous. Several clinical and radiological features are shared with other well-defined pathological entities, and clinical signs and symptoms often occur at different timepoints. Mainly due to this complexity and its rarity, there are currently no validated diagnostic criteria for SAPHO syndrome. Inflammation of the soft tissues around the bones and possible nerve compression could contribute to dysphagia, hypophonia, or obstruction of the airways. Neurologic manifestations could therefore be part of this multiorgan involvement. Here, we present a case of SAPHO syndrome with atypical onset symptoms, characterized by left vocal cord paralysis, acute neck pain due to osteolytic atlantoepistrophic lesion, and an unusual cutaneous manifestation, diagnosed as mid-dermal elastolysis. The latest two, to the best of our knowledge, have been here first described in a case of SAPHO syndrome.
SAPHO(滑膜炎、痤疮、脓疱病、骨质增生和骨炎)是一种罕见综合征,主要特征为皮肤和骨关节表现。最典型的骨关节表现局限于前胸壁,包括通常为非感染性的骨炎、骨质增生以及胸锁关节滑膜炎。然而,SAPHO综合征的临床表现可能相当异质性。一些临床和放射学特征与其他明确的病理实体有共同之处,且临床体征和症状常出现在不同时间点。主要由于这种复杂性及其罕见性,目前尚无针对SAPHO综合征的有效诊断标准。骨骼周围软组织的炎症以及可能的神经受压可能导致吞咽困难、声音嘶哑或气道梗阻。因此,神经学表现可能是这种多器官受累的一部分。在此,我们报告一例具有非典型起病症状的SAPHO综合征病例,其特征为左侧声带麻痹、因溶骨性寰枢椎病变导致的急性颈部疼痛以及一种不寻常的皮肤表现,诊断为真皮中层弹性组织离解。据我们所知,后两者首次在一例SAPHO综合征病例中被描述。