{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:41:34Z","timestamp":1791502894436,"version":"4.3.4"},"reference-count":27,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Pycnodysostosis is a rare genetic disorder causing skeletal dysplasia. It is determined by a gene mutation leading to cathepsin K deficiency and predisposes a patient to osteosclerosis, resulting in increased bone fragility. The altered bone quality typical of this disease is responsible for an increased risk of fractures. The purpose of our study was to evaluate the orthopedic manifestations and potential pitfalls in the surgical treatments of pathological fractures in a series of patients treated in our institution who were affected by pycnodysostosis. Methods: We retrospectively evaluated clinical and radiographic characteristics of five patients with pycnodysostosis treated for pathological fractures at our hospital in the past 5 years. Results: Two male and three female patients were included in this study. Four patients had a family history of pycnodysostosis. All the patients were of short stature, but only two underwent growth hormone treatment. All the patients experienced fractures, mostly in their lower limbs and occurring as a result of low-energy trauma. Most of the patients experienced either consolidation delay or nonunion. Conclusions: The orthopedic management of fractures in patients with pycnodysostosis poses an ongoing challenge for orthopedic surgeons. The fact that the bone is simultaneously sclerotic and brittle makes any orthopedic surgical treatment challenging and at a high risk of nonunion in any case.<\/jats:p>","DOI":"10.3390\/jcm13092522","type":"journal-article","created":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T05:26:13Z","timestamp":1714022773000},"page":"2522","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series"],"prefix":"10.3390","volume":"13","author":[{"given":"Maria Beatrice","family":"Bocchi","sequence":"first","affiliation":[{"name":"Department of Orthopaedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Scuola di Specializzazione in Ortopedia e Traumatologia, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Giuli","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Scuola di Specializzazione in Ortopedia e Traumatologia, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8806-0501","authenticated-orcid":false,"given":"Francesco","family":"Farine","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Scuola di Specializzazione in Ortopedia e Traumatologia, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Ravaioli","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Scuola di Specializzazione in Ortopedia e Traumatologia, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Martellini","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Scuola di Specializzazione in Ortopedia e Traumatologia, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7460-282X","authenticated-orcid":false,"given":"Pasquale","family":"Farsetti","sequence":"additional","affiliation":[{"name":"Department of Clinical Science and Translational Medicine, Section of Orthopaedics and Traumatology, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osvaldo","family":"Palmacci","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1016\/j.semerg.2013.03.001","article-title":"Picnodisostosis: Una rara enfermedad con fracturas frecuentes [Pycnodysostosis: A rare disease with frequent fractures]","volume":"40","year":"2014","journal-title":"Semergen"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-6-20","article-title":"Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011","volume":"6","author":"Xue","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","first-page":"e44823","article-title":"Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis","volume":"15","author":"Atar","year":"2023","journal-title":"Cureus"},{"key":"ref_4","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (1993\u20132024). GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1750-1172-9-60","article-title":"Cathepsin K analysis in a pycnodysostosis cohort: Demographic, genotypic and phenotypic features","volume":"9","author":"Arman","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"104135","DOI":"10.1016\/j.ejmg.2021.104135","article-title":"Clinical and genetic evaluation of Danish patients with pycnodysostosis","volume":"64","author":"Doherty","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/BF02557674","article-title":"Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis","volume":"37","author":"Everts","year":"1985","journal-title":"Calcif. Tissue Int."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1359\/jbmr.1999.14.11.1902","article-title":"Determination of bone markers in pycnodysostosis: Effects of cathepsin K deficiency on bone matrix degradation","volume":"14","author":"Nishi","year":"1999","journal-title":"J. Bone Miner. Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"116674","DOI":"10.1016\/j.bone.2023.116674","article-title":"Pycnodysostosis in children and adults","volume":"169","author":"Hald","year":"2023","journal-title":"Bone"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"29","DOI":"10.21037\/jxym-22-19","article-title":"Surgical treatment, complications and preventive surgery of fractures in pycnodysostosis: A systematic review","volume":"7","author":"Bocchi","year":"2022","journal-title":"J. Xiangya Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_12","first-page":"e24275","article-title":"Orthopedic Treatment of Pycnodysostosis: A Systematic Review","volume":"14","author":"Taka","year":"2022","journal-title":"Cureus"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e252667","DOI":"10.1136\/bcr-2022-252667","article-title":"Management of long bone fractures in patients with pycnodysostosis","volume":"16","author":"Sharma","year":"2023","journal-title":"BMJ Case Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1007\/s43465-022-00675-8","article-title":"Bilateral Atypical Subtrochanteric Femoral Fractures with Primary and Secondary Bone Healing in Pycnodysostosis","volume":"56","author":"Park","year":"2022","journal-title":"Indian J. Orthop."},{"key":"ref_15","first-page":"1010","article-title":"Surgical treatment of pycnodysostosis associated with pathological tibial fracture: Case report and review of the literature","volume":"51","author":"Mariscal","year":"2022","journal-title":"Orthopadie"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.jor.2019.03.022","article-title":"Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients","volume":"16","author":"Grewal","year":"2019","journal-title":"J. Orthop."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"bcr2014207730","DOI":"10.1136\/bcr-2014-207730","article-title":"A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): Lessons learnt","volume":"2014","author":"Matar","year":"2014","journal-title":"BMJ Case Rep."},{"key":"ref_18","first-page":"731910","article-title":"Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis","volume":"2015","author":"Yuasa","year":"2015","journal-title":"Case Rep. Orthop."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2209","DOI":"10.1007\/s00198-015-3191-1","article-title":"Atypical femur fractures in a patient with pycnodysostosis: A case report","volume":"26","author":"Hashem","year":"2015","journal-title":"Osteoporos. Int."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1007\/s00264-016-3257-5","article-title":"Orthopaedic disorders of pycnodysostosis: A report of five clinical cases","volume":"40","year":"2016","journal-title":"Int. Orthop."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.jcot.2018.09.012","article-title":"A rare case of pycnodysostosis: Technical difficulties in managing long bone fractures","volume":"11","author":"Romans","year":"2020","journal-title":"J. Clin. Orthop. Trauma"},{"key":"ref_22","first-page":"54","article-title":"Fracture Management in Pyknodysostosis\u2014A Rare Case Report","volume":"7","author":"Gandhi","year":"2017","journal-title":"J. Orthop. Case Rep."},{"key":"ref_23","first-page":"469","article-title":"Bilateral subtrochanteric femoral fracture due to a very rare disease: Pycnodisostosis","volume":"65","year":"2021","journal-title":"Rev. Espa\u00f1ola De Cirug\u00eda Ortop\u00e9dica Y Traumatol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/S1297-319X(03)00143-X","article-title":"Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis","volume":"71","author":"Kundu","year":"2004","journal-title":"Jt. Bone Spine"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/BPB.0b013e328341bc6a","article-title":"Fracture management in pycnodysostosis: 27 years of follow-up","volume":"20","author":"Bor","year":"2011","journal-title":"J. Pediatr. Orthop. B"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1590\/S0102-36162010000600017","article-title":"Reconsiderations regarding time of fracture healing in pycnodysostosis","volume":"45","author":"Rabelo","year":"2015","journal-title":"Rev. Bras. De Ortop."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s00402-006-0270-y","article-title":"Surgical outcomes after treatment of fractures in femur and tibia in pycnodysostosis","volume":"127","author":"Nakase","year":"2007","journal-title":"Arch. Orthop. Trauma Surg."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/9\/2522\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:33:51Z","timestamp":1760106831000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/9\/2522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,25]]},"references-count":27,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,5]]}},"alternative-id":["jcm13092522"],"URL":"https:\/\/doi.org\/10.3390\/jcm13092522","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,25]]}}}