If it occurs, evaluation for underlying disease especially osteopetrosis must be considered.
Bijan Khademi, Venon Asefi, Mehdi Tarzi 2011, 'Osteopetrosis Complicated by Maxillary Osteomyelitis: A Case Report', Iranian Journal of Otorhinolaryngologyhttp://ijorl.mums.ac.ir/pdf_347_30e9ca227600cedd28f4e0f09326798f.html. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
X-ray examinations showed typical signs of osteopetrosis.
Mine Özkol, Ali Er, Fatih Düzgün 2015, 'Osteopetrosis: A Case Report', Meandros Medical and Dental Journalhttp://meandrosmedicaljournal.org/article_9763/Osteopetrosis-A-Case-Report. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis.
Bijan Khademi, Venon Asefi, Mehdi Tarzi 2011, 'Osteopetrosis Complicated by Maxillary Osteomyelitis: A Case Report', Iranian Journal of Otorhinolaryngologyhttp://ijorl.mums.ac.ir/pdf_347_30e9ca227600cedd28f4e0f09326798f.html. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
In contrast, osteopetrosis results from osteoclast deficiency.
Haidi Bi, Xing Chen, Song Gao, Xiaolong Yu, Jun Xiao, Bin Zhang, Xuqiang Liu, MinDai 2017, 'Key Triggers of Osteoclast-Related Diseases and Available Strategies for TargetedTherapies: A Review', Frontiers in Medicinehttp://journal.frontiersin.org/article/10.3389/fmed.2017.00234/full. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
However, radiological investigations revealed osteopetrosis, which, though rare, can result in optic atrophy.
Nishant Kumar, Anirudh Singh, Rohit Saxena, Vimla Menon, Sanjay Sharma 2014, 'An unusual cause of optic atrophy in a child', Indian Journal of Ophthalmologyhttp://www.ijo.in/article.asp?issn=0301-4738;year=2014;volume=62;issue=4;spage=494;epage=495;aulast=Kumar. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Its deficiency causes osteopetrosis due to suppression of osteoclast development and activation.
Masayuki Kamimura, Yu Mori, Akiko Sugahara-Tobinai, Toshiyuki Takai, Eiji Itoi 2015, 'Impaired Fracture Healing Caused by Deficiency of the Immunoreceptor Adaptor ProteinDAP12.', PLoS ONEhttp://europepmc.org/articles/PMC4452492?pdf=render. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
He also had imaging and laboratory studies suggestive of osteopetrosis.
Carlos Sendon, Americo E. Esquibies 2019, 'ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis',Respiratory Medicine Case Reportshttp://www.sciencedirect.com/science/article/pii/S2213007119300140. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia.
Zahi Mitri, Vin Tangpricha 2012, 'Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentationand Differential Diagnosis', Case Reports in Endocrinologyhttp://dx.doi.org/10.1155/2012/238364. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Although rare, osteopetrosis may complicate treatment of fractures in such patients.
Ahmet Aslan, Yakup Barbaros Baykal, Emin Uysal, Tolga Atay, Vecihi Kirdemir, MetinLütfi Baydar, Nevres Hürriyet Aydoğan 2014, 'Surgical Treatment of Osteopetrosis-Related Femoral Fractures: Two Case Reports andLiterature Review', Case Reports in Orthopedicshttp://dx.doi.org/10.1155/2014/891963. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Authors introduced a case of a 27-year men with osteopetrosis with hip arthrosis.
Zmago Krajnc, Slavko Kramberger 2004, 'TOTAL HIP ARTHROPLASTY IN OSTEOPETROSIS – REPORT OF A CASE', Zdravniški Vestnikhttp://vestnik.szd.si/index.php/ZdravVest/article/view/2305. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)