EJMCR |

Case Report

Volume: 9 | Issue: 6 | Published: Jul 25, 2025 | Pages: 135 - 139 | DOI: 10.24911/ejmcr.9-2224

A Rare Variant of Osteopoikilosis: A Case Report

Authors: Filippo Spiezia , Giulio Botonico , Marilena Carmela Di Giacomo , Flavia Carriero , Filippo Migliorini , Giuseppe Terrazzano

Article Info

Authors

Filippo Spiezia

Department of Orthopaedic and Trauma Surgery, San Carlo Hospital, 85100 Potenza, Italy

Giulio Botonico

Department of Orthopaedic and Trauma Surgery, San Carlo Hospital, 85100 Potenza, Italy

Marilena Carmela Di Giacomo

Genetics Clinic and Cytogenetics Laboratory, San Carlo Hospital, 85100 Potenza, Italy

Flavia Carriero

Department of Health Sciences, University of Basilicata, 85100 Potenza, Italy

Filippo Migliorini

Department of Orthopaedic and Trauma Surgery, Academic Hospital of Bolzano (SABES-ASDAA), 39100 Bolzano, Italy

Giuseppe Terrazzano

Department of Health Sciences, University of Basilicata, 85100 Potenza, Italy

Publication History

Received: May 22, 2025

Accepted: July 21, 2025

Published: July 25, 2025

Abstract

Background: 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 LEMD3 gene.

Case presentation: 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.

Conclusion: A previously unreported splicing mutation in the LEMD3 gene was identified in a young, asymptomatic male patient with OPK. The diagnosis was made incidentally during routine imaging following a car accident, 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 LEMD3-related bone disorders.

Keywords: Osteopoikilosis, Osteopathy, Osteopecilia, LEMD3 variant, Diagnosis.

Pubmed Style

Filippo Spiezia, Giulio Botonico, Marilena Carmela Di Giacomo, Flavia Carriero, Filippo Migliorini, Giuseppe Terrazzano. A Rare Variant of Osteopoikilosis: A Case Report. EJMCR. 2025; 25 (July 2025): 135-139. doi:10.24911/ejmcr.9-2224

Web Style

Filippo Spiezia, Giulio Botonico, Marilena Carmela Di Giacomo, Flavia Carriero, Filippo Migliorini, Giuseppe Terrazzano. A Rare Variant of Osteopoikilosis: A Case Report. https://www.ejmcr.com/articles/2224 [Access: August 14, 2025]. doi:10.24911/ejmcr.9-2224

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Filippo Spiezia, Giulio Botonico, Marilena Carmela Di Giacomo, Flavia Carriero, Filippo Migliorini, Giuseppe Terrazzano. A Rare Variant of Osteopoikilosis: A Case Report. EJMCR. (2025), [cited August 14, 2025]; 25 (July 2025): 135-139. doi:10.24911/ejmcr.9-2224

Harvard Style

Filippo Spiezia, Giulio Botonico, Marilena Carmela Di Giacomo, Flavia Carriero, Filippo Migliorini, Giuseppe Terrazzano (2025) A Rare Variant of Osteopoikilosis: A Case Report. EJMCR, 25 (July 2025): 135-139. doi:10.24911/ejmcr.9-2224

Chicago Style

Filippo Spiezia, Giulio Botonico, Marilena Carmela Di Giacomo, Flavia Carriero, Filippo Migliorini, Giuseppe Terrazzano. "A Rare Variant of Osteopoikilosis: A Case Report." 25 (2025), 135-139. doi:10.24911/ejmcr.9-2224

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Filippo Spiezia, Giulio Botonico, Marilena Carmela Di Giacomo, Flavia Carriero, Filippo Migliorini, Giuseppe Terrazzano (2025) A Rare Variant of Osteopoikilosis: A Case Report. , 25 (July 2025), 135-139. doi:10.24911/ejmcr.9-2224