Case Report - (2021) Volume 15, Issue 2
Received: 25-Jan-2021
Published:
10-Feb-2021
, DOI: 10.37421/1747-0862.2021.15.475
Citation: André, Diogo, Fabiana Gouveia, Helena Luís and João Gaspar, et al. “Disseminated Condensing Osteopathy.” J Mol Genet Med 15 (2021): 475.
Copyright: © 2021 André D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
A 32-year-old female patient, with no personal history or habitual medication of relief, resorted to the emergency department for pain complaints following trauma to the left hemithorax, with no associated fracture. Imagiologically, the presence of symmetrical radiopaque changes affecting the joint regions at the level of the humerus, femurs and pelvic girdle was verified. Both in the objective examination and analytically, there were no changes. The patient continued to be followed up in Internal Medicine, with the diagnosis of Osteopoikilosis. This benign entity, of autosomal dominant transmission with variable penetrance, is often diagnosed by chance. It afflicts both genders and tends to appear in childhood, persisting throughout the patient's life. As a rule, they have a symmetrical distribution and affect just-articular areas of the bone skeleton.
Disseminated Condensing Osteopathy • Osteopoikilosis • Hereditary Bone Disease • Radiography
Disseminated Condensing Osteopathy (DCO), stained bone disease or osteopoikilosis, is a benign autosomal dominant disease with variable penetrance, often diagnosed by chance. It is an entity, usually asymptomatic, diagnosed accidentally and it afflicts both genders [1-3]. Pain is not a frequent characteristic of DCO, but in some patients is the presenting symptom [4]. These osteosclerotic dysplasias tend to appear in childhood, persisting throughout the patient's life. As a rule, they have a symmetrical distribution and affect just-articular areas of the bony skeleton, sparing blood, ribs and vertebrae [1-3].
A 32-year-old female patient, with no personal history or habitual medication of relief, resorted to the emergency department for pain complaints following trauma to the left hemithorax, with no associated fracture. Imagiologically, the presence of symmetrical radiopaque changes affecting the joint regions at the level of the humerus, femurs and pelvic girdle was verified (Figures 1-3). Both in the objective examination and analytically, there were no changes. The patient continued to be followed up in Internal Medicine, with the diagnosis of Osteopoikilosis.
DCO results from changes in maturation of the endochondral bone, resulting in focal radiopaque condensations in the radiographs of peri-articular areas, epiphyses and metaphyses of long bones. These sclerotic lesions, in bone scintigraphy, do not reveal an increased activity. Histologically they represent focal condensations of lamellar compact bone [1-4].
Differential diagnoses include osteoblastic bone metastases, melorheostosis, enchondromatosis, mastocytosis and chondrodysplasia. There are reports that this entity occurs with other pathologies, however, its relationship has not been demonstrated [1-3]. There isn't a standard treatment scheme, usually non-steroidal anti-inflammatory drugs and opioids suffice to mitigate the pain [4].
Despite its benign nature, its recognition and diagnosis are vital due to the impact in patient's prognosis. This case highlights the existence of this entity as a differential diagnosis in patients with suggestive radiographic alterations. Symptomatic patients should receive conservative treatment and undergo long-term follow-up, instead of subjecting them to invasive complementary diagnostic procedures.
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