Year: 2024
Type: article
Study design: Case Report
Abstract: In a novel investigation of familial aggregation in SAPHO syndrome, a rare chronic autoinflammatory disorder characterized by the acronym synovitis, acne, pustulosis, hyperostosis, and osteitis, we identified a unique familial cohort with four affected individuals, including a male, marking the first report of male familial involvement in the literature. The index case manifested palmoplantar pustulosis, which was succeeded by symptoms of anterior chest wall and upper limb pain, culminating in a diagnosis of SAPHO syndrome following a 99mTc-MDP whole-body bone scintigraphy. Subsequently, three maternal aunts of the index case exhibited analogous clinical presentations, leading to a SAPHO syndrome diagnosis. All affected family members reported anterior chest wall pain, with three demonstrating peripheral joint involvement and one exhibiting spinal manifestations. Furthermore, three individuals developed palmoplantar pustulosis, while one lacked cutaneous manifestations. The study also delved into the genetic underpinnings of SAPHO syndrome, identifying potential associations with specific genetic variants, although no genetic sequencing was conducted in this report. Future studies are warranted to perform genetic analyses that may elucidate novel pathogenic genes, thereby enhancing our understanding of the disease's etiology and potentially informing therapeutic strategies.
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $161
Award: G3316130868
OpenAlex ID: W4406774316