RT Journal Article
SR Electronic
T1 Not Everything is Osteoporosis: Multiple Low-Impact Fractures in an Adult Female Patient
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP jrheum.2024-0672
DO 10.3899/jrheum.2024-0672
A1 Mazeda, Caroline
A1 Azevedo, Sofia
A1 Sousa, Sérgio
A1 Barcelos, Anabela
YR 2025
UL http://www.jrheum.org/content/early/2025/01/26/jrheum.2024-0672.abstract
AB Pycnodysostosis is a subtype of osteopetrosis resulting from mutations in the cathepsin K gene (CTSK) on chromosome 1q21.1,2 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.