[Osteopoikilosis. A case report].

An Pediatr (Engl Ed)

Servicio de Pediatría, Hospital de la Santa Creu i Sant Pau, Barcelona, España.

Published: November 2019

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http://dx.doi.org/10.1016/j.anpedi.2018.10.003DOI Listing

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Article Synopsis
  • - Osteopoikilosis (OPK) is a rare, benign genetic bone condition characterized by the presence of osteosclerosis foci, and while most cases are asymptomatic, some patients experience joint pain and inflammation.
  • - The case study focuses on a 33-year-old patient with concurrent ankylosing spondylitis (AS) and OPK, highlighting the complications such as severe inflammation and poor response to standard treatments, but a positive reaction to a specific TNF inhibitor.
  • - The report emphasizes the importance of distinguishing OPK from serious conditions like neoplastic lesions, urging doctors to be aware of these rare cases to avoid unnecessary testing.
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Osteopoikilosis, a sclerosing bone dysplasia, is an asymptomatic incidental finding characterised by multiple bone islands. Although it requires no treatment there can be diagnostic uncertainty as appearances can be similar to osteoblastic metastases or metabolic disorders such as Paget disease. We present a case of osteopoikilosis in a patient with familial adenopolyposis and discuss the clinical presentation, image findings and key considerations in diagnosis of this benign entity.

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Key Clinical Message: Osteopoikilosis is an asymptomatic osteosclerotic dysplasia, of autosomal dominant inheritance, which does not cause deformity or alteration in bone development, of incidental diagnosis. The differential diagnosis should be made with osteoblastic metastases, among others, especially if it is asymmetric and in patients over 50 years of age.

Abstract: Osteopoikilosis is a rare benign bone disease, characterized by the appearance of bone islands in the osseous tissue, which could be confused with bone metastasis.

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Osteopoikilosis (OP) is a rare genetic bone dysplasia that causes dense patches in the trabecular bone and occurs in one in 50,000 people. The exact cause is unknown, but it could be due to mutations in the LEM domain-containing gene 3. Two cases were discovered incidentally in a clinic.

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