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.
