Osteopoikilosis in the ribs, pelvic region and spine: a case report

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Osteopoikilosis is a rare inherited benign bone dysplasia incidentally found on radiological exams. It is characterized by a specific radiological pattern: diffuse, round or oval, symmetrically shaped sclerotic bone areas distributed throughout the skeleton. It is essential to do a correct diagnosis because these lesions could be easily confused with bone metastasis.

We reported a case of an osteopoikilosis patient presenting to our clinic with transient loss of consciousness and without any numbness, tingling and weakness in the legs or other parts of the body. The computed tomography scan showed multiple small sclerotic foci bone islands, scattered throughout the thoracic and lumbar spine, ribs, pelvic bone, sacrum and bilateral proximal femur. No significant increase in the activity was detected in technetium-99m whole-body bone scintigraphy. The patient was diagnosed with characteristic radiological findings of osteopoikilosis and was followed up.

Sobre autores

Maria Paparella

Department of Clinical and Experimental Medicine, Foggia University School of Medicine

Email: mt.paparella@gmail.com
ORCID ID: 0000-0003-2573-9509

MD

Itália, Viale L. Pinto 1, 71121, Foggia

Ilaria Gangai

Department of Clinical and Experimental Medicine, Foggia University School of Medicine

Email: hilary_ps@libero.it
ORCID ID: 0000-0001-9594-4810

MD

Itália, Viale L. Pinto 1, 71121, Foggia

Chiara Porro

Department of Clinical and Experimental Medicine, Foggia University School of Medicine

Email: chiara.porro@unifg.it
ORCID ID: 0000-0002-7526-6968

MD

Itália, Viale L. Pinto 1, 71121, Foggia

Laura Eusebi

Radiology Unit, Carlo Urbani

Email: lauraeu@virgilio.it
ORCID ID: 0000-0002-4172-5126

MD

Itália, Jesi

Ferdinando Silveri

Rheumatology Unit, University of Ancona

Email: fsilveri@libero.it
ORCID ID: 0000-0002-7847-245X

MD

Itália, Ancona

Aldo Cammarota

IRCCS-CROB

Email: aldo.cammarota@crob.it
ORCID ID: 0000-0003-4211-5140

MD

Itália, Rionero in Vulture

Giuseppe Guglielmi

Department of Clinical and Experimental Medicine, Foggia University School of Medicine; Radiology Unit, Barletta University Hospital

Autor responsável pela correspondência
Email: giuseppe.guglielmi@unifg.it
ORCID ID: 0000-0002-4325-8330

MD, Professor

Itália, Viale L. Pinto 1, 71121 Foggia; Foggia

Bibliografia

  1. Negi RS, Manchanda KL, Sanga S, et al. Osteopoikilosis ― spotted bone disease. Med J Armed Forces India. 2013;69(2):196–198. doi: 10.1016/j.mjafi.2012.05.009
  2. Mahbouba J, Mondher G, Amira M, et al. Osteopoikilosis: a rare cause of bone pain. Caspian J Intern Med. 2015;6(3):177–179.
  3. Carpintero P, Abad JA, Serrano P, et al. Clinical features of ten cases of osteopoikilosis. Clin Rheumatol. 2004;23(6):505–508. doi: 10.1007/s10067-004-0935-2
  4. Tong EC, Samii M, Tchang F. Bone imagingas an aid for the diagnosis of osteopoikilosis. Clin Nucl Med. 1988;13(11):816–819. doi: 10.1097/00003072-198811000-00009
  5. Drouin CA, Grenon H. The association of Buschke–Ollendorf syndrome and nail-patella syndrome. J Am Acad Dermatol. 2002;46(4):621–625. doi: 10.1067/mjd.2002.120614
  6. Albers-Schönberg HE. Fortschr Roentgen. 1915;24(23):174.
  7. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004;36(11):1213–1218. doi: 10.1038/ng1453
  8. Gutierrez D, Cooper KD, Mitchell AL, et al. Novel somatic mutation in LEMD3 splice site results in Buschke–Ollendorff syndrome with polyostotic melorheostosis and osteopoikilosis. Pediatr Dermatol. 2015;32(5):e219–220. doi: 10.1111/pde.12634
  9. Vanhoenacker EM, De Beuckeleer LH, Wan Hul W, et al. Sclerosing bone dysplasias: genetic and radioclinicalfeatures. Eur Radiol. 2000;10(9):1423–1433. doi: 10.1007/s003300000495
  10. Amezcua-Guerra LM, Mansilla LJ, Fernandez TS, et al. Osteopoikilosis in an ancient skeleton: more than a medical curiosity. Clin Rheumatol. 2005;24(5):502–506. doi: 10.1007/s10067-004-1072-7
  11. Niwayama G. Enostosis, hyperstosis, and periostitis. In: Resnick D., ed. Diagnosis of Bone and Joint Disorders. Philadelphia: WB Saunders; 1988. Р. 4084–4088.
  12. Dahan S, Bonafé JL, Laroche M, et al. Iconography of Buschke–Ollendorff syndrome: X-ray computed tomography and nuclear magnetic resonance of osteopoikilosis. Ann Dermatol Venereol. 1989;116(3):225–230.
  13. Mungovan JA, Tung GA, Lambiase RE, et al. Tc-99m MDP uptake in osteopoikilosis. Clin Nucl Med. 1994;19(1):6–8. doi: 10.1097/00003072-199401000-00002

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Declaração de direitos autorais © Paparella M.T., Gangai I., Porro C., Eusebi L., Silveri F., Cammarota A., Guglielmi G., 2022

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Este artigo é disponível sob a Licença Creative Commons Atribuição–NãoComercial–SemDerivações 4.0 Internacional.

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