Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease

Analysis of tissue from a 34-years-old male patient from Austrian origin with a history of multiple fractures associated with painful episodes over the carpal, tarsal and at the end of the long bones respectively is presented. Radiographic images and axial 3DCT scans showed widespread defects in trabecular bone architecture and ill-defined cortices over these skeletal sites in the form of discrete cystic-like lesions. Family history indicated two sisters (one half and one full biological sisters) also with a history of fractures.

Source: Bone - October 10, 2018 Category: Orthopaedics Authors: Mohammad Shboul, Paul Roschger, Rudolf Ganger, Lefteris Paschalis, Stamatia Rokidi, Shahin Zandieh, Jana Behunova, Christian Muschitz, Astrid Fahrleitner-Pammer, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Carine Bonnard, Bruno Reversade, Klaus Kl Tags: Case Report Source Type: research