Not Everything is Osteoporosis: Multiple Low-Impact Fractures in an Adult Female Patient
Pycnodysostosis is a subtype of osteopetrosis resulting from mutations in the cathepsin K gene (CTSK) on chromosome 1q21.<sup>1,2</sup> We report the case of a 47-year-old White female patient attending a rheumatology clinic with a history of multiple low-impact fractures in adulthood, including left and right subtrochanteric fractures and tibial shaft fractures at the ages of 46, 40, 31, and 22 years, respectively.
Authors
- Anabela Barcelos (ORCID: https://orcid.org/0000-0002-4116-8964)
- Carolina Mazeda (ORCID: https://orcid.org/0000-0002-9200-5022)
- Sofia Ferreira Azevedo (ORCID: https://orcid.org/0000-0002-1786-7925)
- S. G. Sousa (ORCID: https://orcid.org/0000-0001-9047-2965)
Institutions
- Escola Superior de Tecnologia da Saúde de Coimbra (PT)
- University of Aveiro (PT)
- University of Coimbra (PT)
- Universidade Nova de Lisboa (PT)
Publication Details
- Journal
- The Journal of Rheumatology
- Published
- 2025-02-01
- DOI
- https://doi.org/10.3899/jrheum.2024-0672
- Primary Topic
- Bone fractures and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00