A Rare Variant of Osteopoikilosis: A Case Report

<p><strong>Background:</strong><em> </em>Osteopoikilosis (OPK) is a rare benign bone disorder, inherited in an autosomal dominant pattern. Also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, consisting in hyperostotic areas in periarticular osseous regions. Clinically, OPK is often asymptomatic or associated with mild, nonspecific symptoms, such as diffuse bone pain. Diagnosis is usually incidental and readily made through plain radiography, which reveals characteristic multiple small, round or ovoid sclerotic lesions. The condition has been linked to heterogeneous mutations in the <em>LEMD3</em> gene.</p> <p><strong>Case presentation:</strong> A 17-year-old male patient presented with an index finger fracture following a motor vehicle collision. He reported no history of bone pain, polyarthralgia, or involvement of either large or small joints. There were no complaints of prior skin lesions, nor were any observed upon hospital admission. Radiologic examination of the wrist revealed numerous, well-defined, symmetric sclerotic lesions, localized in the area of the fracture. To further characterize these findings, a whole-body CT scan was performed, confirming the presence of similar lesions in multiple skeletal sites. Genetic analysis subsequently identified a novel mutation in the LEMD3 gene. Based on these clinical, radiologic, genetic findings, a diagnosis of OPK was established.</p> <p><strong>Conclusion:</strong> A <strong>previously unreported splicing mutation</strong> in the <em>LEMD3</em> gene was identified in a <strong>young, asymptomatic male patient</strong><strong> </strong>with<strong> OPK.</strong> The diagnosis was made <strong>incidentally during routine imaging</strong> following a <strong>car accident</strong>, highlighting the typically silent clinical course of OPK and the importance of imaging in uncovering such skeletal disorder. This novel mutation expands the known mutational spectrum of <em>LEMD3</em>-related bone disorders.</p>