Yakovlev AA, Gaidar EV, Suspitsin EN, Korzun PR, Kostik MM. Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature. World J Orthop 2026; 17(2): 113473 [DOI: 10.5312/wjo.v17.i2.113473]
Corresponding Author of This Article
Mikhail M Kostik, MD, PhD, Professor, Department of Pediatry, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Feb 18, 2026 (publication date) through Feb 4, 2026
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World Journal of Orthopedics
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Yakovlev AA, Gaidar EV, Suspitsin EN, Korzun PR, Kostik MM. Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature. World J Orthop 2026; 17(2): 113473 [DOI: 10.5312/wjo.v17.i2.113473]
World J Orthop. Feb 18, 2026; 17(2): 113473 Published online Feb 18, 2026. doi: 10.5312/wjo.v17.i2.113473
Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature
Alexandr A Yakovlev, Ekaterina V Gaidar, Evgeny N Suspitsin, Polina R Korzun, Mikhail M Kostik
Alexandr A Yakovlev, Ekaterina V Gaidar, Mikhail M Kostik, Department of Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg 194100, Sankt-Peterburg, Russia
Evgeny N Suspitsin, Polina R Korzun, Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, Saint Petersburg 194100, Sankt-Peterburg, Russia
Evgeny N Suspitsin, Department of Tumor Growth Biology, N.N. Petrov Institute of Oncology, Saint Petersburg 197758, Sankt-Peterburg, Russia
Author contributions: Yakovlev AA and Kostik MM contributed to conceptualization, writing, review, and editing; Gaidar EV, Kostik MM, Korzun PR, and Suspitsin EN contributed to methodology; Gaidar EV contributed to investigation and visualization; Kostik MM contributed to supervision and project administration; All authors have read and agreed to the published version of the manuscript.
Supported by the Russian Science Foundation, No. 24-45-00067.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mikhail M Kostik, MD, PhD, Professor, Department of Pediatry, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru
Received: August 27, 2025 Revised: November 3, 2025 Accepted: December 11, 2025 Published online: February 18, 2026 Processing time: 160 Days and 8.4 Hours
Abstract
BACKGROUND
Osteopathia striata with cranial stenosis (OSCS) is a rare genetic disorder (Mendelian Inheritance in Man: 300373) inherited in an X-linked dominant pattern. It is classified as a form of skeletal dysplasia and is characterized by linear striations of bone sclerosis, primarily affecting the long bones. OSCS may present as an isolated condition or as part of broader genetic conditions such as Horan-Beighton and Goltz syndromes. Thus far, approximately 100 cases have been reported.
CASE SUMMARY
Herein, we report the case of an 11-year-old girl with OSCS in association with juvenile idiopathic arthritis (JIA). Osteopathia striata was suspected during the examination in a local healthcare facility due to arthritis. The patient was then transferred to the pediatric rheumatology clinic due to the inefficacy of the first-line systemic immunosuppressive therapy. Genetic analysis revealed a previously unreported AMER1 c.800C>A (p.Ser267*) variant, which was not detected in the healthy mother. Thus, the diagnosis of OSCS was made based on characteristic bone imaging and the presence of likely pathogenic AMER1 variant. This study presents the first detailed description of OSCS occurring in combination with JIA.
CONCLUSION
Diagnosis of OSCS can be challenging due to its rarity and phenotypic heterogeneity. The relationship between JIA and OSCS remains unclear. This case may raise awareness of OSCS.
Core Tip: This study presents the first detailed description of osteopathia striata with cranial stenosis (OSCS) occurring in conjunction with juvenile idiopathic arthritis (JIA). Arthritis may represent a manifestation of the underlying skeletal dysplasia, but the relationship between JIA and OSCS remains unclear. This case may contribute to raising awareness of OSCS and highlights the need for further research to explore potential associations between this rare skeletal disorder and autoimmune joint diseases such as JIA.
