Osteopoikilosis: Case Report

 Corresponding author: Juan Pablo Domínguez Copyright © 2025 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution License 4.0. Osteopoikilosis: Case Report Ximena Cuzco N 1, Juan Pablo Domínguez 2, *, Adrián Taco 3, Andrés Jiménez 4 and Jessica Villalba 5 1 Radiology Postgraduate Resident, Central University of Ecuador; Quito Ecuador. 2 Scholar at The Secretariat of Higher Education, Science, Technology and Innovation (SENESCYT); Quito Ecuador. 3 Radiologist, Isidro Ayora Obstetric-Gynecologic Hospital. Postgraduate Tutor in Radiology, Central University of Ecuador; Quito Ecuador. 4 Radiologist, Isidro Ayora Obstetric-Gynecologic Hospital. Postgraduate Tutor in Radiology, San Francisco de Quito University; Quito Ecuador. 5 Radiologist, Isidro Ayora Obstetric-Gynecologic Hospital; Quito Ecuador. World Journal of Biology Pharmacy and Health Sciences, 2025, 24(01), 467-471 Publication history: Received on 15 September 2025; revised on 20 October 2025; accepted on 23 October 2025 Article DOI: https://doi.org/10.30574/wjbphs.2025.24.1.0921 Abstract Osteopoikilosis is a rare autosomal dominant bone disorder characterized by the presence of multiple sclerotic lesions distributed throughout the axial and appendicular skeleton. Although generally asymptomatic, it can be associated with other skeletal and systemic abnormalities, such as contractural fibrosis, keloids, and malignant degeneration. We present the case of a male patient in whom the diagnosis was incidental after the identification of sclerotic lesions in routine radiographic studies. Keywords: Osteopoikilosis; Osteopathia Condensans Disseminata; Osteochondrodysplasia; Buschke-Ollendorff Syndrome 1. Introduction Osteopoikilosis, also known as osteopathia condensans disseminata or spotted bone disease, is a rare benign sclerosing osteochondrodysplasia (1,2), first described by Albers-Schönberg in 1915 and later named by Ledoux-Lebard in 1917 (3,4). Its global prevalence is approximately 5 per 100,000 individuals, and its etiology is related to mutations in the LEMD3 gene, with autosomal dominant inheritance (5,6). The characteristic bone lesions result from impaired trabecular bone resorption and appear as ovoid or round sclerotic foci with well-defined margins and a symmetric distribution (7). The most common sites are the epiphyses and metaphyses of long bones, pelvis, hands, and feet (8). Although usually asymptomatic, between 15–20% of patients may present with mild pain or joint effusion (8,9). In general, the disease has a favorable prognosis (10), but in some cases, it is associated with Buschke-Ollendorff syndrome, characterized by the coexistence of specific cutaneous lesions (11). 2. Materials and Methods We present the case of an adult patient with an incidental diagnosis of osteopoikilosis. Clinical features, radiological findings, and correlation with reported symptoms are analyzed. World Journal of Biology Pharmacy and Health Sciences, 2025, 24(01), 467-471 468 3. Case report A 50-year-old male hospital maintenance worker, resident of Quito, Ecuador, attended a routine occupational medical check-up as part of his periodic professional examinations. There was no family history of clinical relevance. His personal history included a prior diagnosis of hearing loss, with no known hereditary bone diseases or metabolic disorders. During the evaluation, radiographic studies revealed unexpected and significant findings. The images showed multiple symmetrically distributed sclerotic lesions with well-defined margins, located in the epiphyses and metaphyses of long bones, as well as in the pelvis and carpus. In the lumbosacral spine, focal sclerotic lesions were observed in the vertebral bodies, predominantly at L5 and the sacrum, without significant loss of vertebral height or fracture signs (Figure 1). In the pelvis, multiple sclerotic foci were identified in the iliac and sacroiliac regions, without cortical erosion or associated periosteal reaction. In the hands and wrists, symmetric sclerotic lesions were detected in the carpal and metacarpal bones, without alterations in the surrounding bone architecture. In the humeri and femora, well-demarcated lesions were observed in the metaphyses and epiphyses, without distortion of bone contours or fracture signs. Finally, in the feet, rounded sclerotic lesions were identified in the tarsal and metatarsal bones, without evident compromise of trabecular bone (Figure 2). The patient reported intermittent episodes of moderate-intensity low back pain, which did not correlate with radiological findings of spinal canal stenosis or evident radicular involvement. However, the symmetric distribution of the sclerotic lesions in the spine and pelvis suggests that these may contribute to biomechanical alterations, partially explaining the reported painful symptoms. For treatment, acetaminophen was prescribed for intermittent low back pain management. In addition, the patient was counseled regarding the probable genetic nature of the disease. Source: HGOIA Figure 1 Presence of longitudinal bone islands within well-defined trabeculae, measuring between 4.0 mm and 5.2 mm, located at the vertebral bodies World Journal of Biology Pharmacy and Health Sciences, 2025, 24(01), 467-471 469 Figure 2 Longitudinal bone islands within well-defined trabeculae, measuring between 4.5 mm and 9.9 mm, located at the bilateral interphalangeal joints of the hands, wrists, as well as in the shoulder, elbow, hip, knee, and ankle joints 4. Discussion The diagnosis of osteopoikilosis is often incidental, based on radiographic findings that show periarticular osteodense foci of oval or rounded morphology, symmetrically distributed in the epiphyses of long bones as well as in the ossification centers of the carpus and tarsus, without associated clinical symptoms (10). However, it is important to note that multiple sclerotic lesions identified in radiological studies may correspond to different etiologies, including primary bone tumors (such as osteoblastoma, chondroblastoma, or osteoid osteoma), bone metastases, chronic osteomyelitis foci, and other sclerosing bone diseases such as melorheostosis or osteopathia striata. Therefore, differential diagnosis is fundamental to distinguish osteopoikilosis from these other conditions (12). Radiologically, osteopoikilosis appears as multiple round or oval bone densities symmetrically distributed in the axial and appendicular skeleton. These findings may be confused with osteoblastic bone metastases, highlighting the importance of careful differential diagnosis (13,14,15). However, unlike metastases, radiolucent bone areas usually remain normal in osteopoikilosis, which helps differentiate it from malignant conditions (14,15). In the present case, the presence of multiple symmetric sclerotic foci with well-defined margins and without cortical bone involvement suggests a congenital pathology, specifically osteopoikilosis. This finding is consistent with the literature, where the most frequent sites include phalanges (100%), carpus (97.4%), metacarpals (92.5%), toe phalanges (87.2%), metatarsals (84.4%), tarsus (84.6%), pelvis (74.4%), femur (74.4%), and other axial and appendicular skeletal segments (15). Clinically, most patients with osteopoikilosis are asymptomatic, although a small percentage may experience joint pain or effusion (14,15). When symptoms are present, they are usually mild and nonprogressive (13). As complementary studies, Tc-99 bone scintigraphy may be useful, as osteopoikilosis does not exhibit the hypercaptation foci characteristic of osteoblastic bone metastases. In addition, computed tomography (CT) and magnetic resonance imaging (MRI) can provide further information, revealing small benign osteosclerotic areas that do not affect surrounding soft tissues. In cases where the diagnosis is inconclusive, bone biopsy may be considered as an additional diagnostic option. Histological analysis reveals, within the trabecular bone, condensations of compact lamellar bone arranged concentrically around vascular channels, with cement lines that remain unaltered after growth is completed (10). In this patient, given the evident findings consistent with osteopoikilosis and the absence of overlapping features suggestive of metastasis, additional tests such as bone scintigraphy or biopsy were not necessary. A relevant aspect of this case is the absence of a family history of hereditary bone disorders, which is notable since osteopoikilosis is an autosomal dominant condition (14). However, this does not exclude the possibility that other family members may also have the condition undiagnosed, since the disease is often asymptomatic or its symptoms may have been attributed to more common musculoskeletal conditions such as osteoarthritis or mechanical low back pain. Moreover, as it is a benign condition that does not require specific treatment, symptoms may have been underestimated or unreported by other relatives. World Journal of Biology Pharmacy and Health Sciences, 2025, 24(01), 467-471 470 Another important point is that the diagnosis in this patient was incidental, detected during a routine occupational health check and not due to his low back pain. The patient mentioned lumbar symptoms only after the radiological findings were revealed, suggesting that he did not consider them clinically relevant in his daily life. Although low back pain was not the initial reason for evaluation, the presence of sclerotic lesions in the pelvis and spine suggests a possible underlying biomechanical relationship contributing to his symptoms. In this context, several hypotheses can be proposed regarding the relationship between osteopoikilosis and low back pain in this patient. The sclerotic lesions may alter the normal distribution of mechanical loads in the spine and pelvis, favoring repetitive microtrauma and tension in adjacent soft tissues. Likewise, although no critical compromise was evidenced in the initial imaging, osteopoikilosis may predispose to progressive spinal canal stenosis phenomena, affecting neural structures and causing low back pain or radiculopathy (15). Additionally, cases have been described where osteopoikilosis is associated with contractural fibrosis and other connective tissue abnormalities, which could contribute to the patient’s symptoms (14). The identification of specific radiological features of osteopoikilosis is crucial to avoid misdiagnosis and unnecessary treatments (13). Since the patient showed no signs of neurological deficit or radiological findings suggestive of significant structural spinal pathology, conservative management was recommended with analgesia and physiotherapy aimed at improving lumbopelvic stability. However, the importance of clinical follow-up was emphasized to monitor symptom progression and the potential need for advanced imaging studies, such as MRI, in case of worsening. The prognosis of this disease is excellent, as the condition does not reduce life expectancy, and no cases of malignant transformation have been reported. While most individuals remain symptom-free throughout life, approximately 15– 20% may experience mild joint pain or effusions. In rare instances, osteopoikilosis may coexist with other musculoskeletal or rheumatologic disorders, although its presence does not alter the course or prognosis of those conditions. The primary clinical challenge lies in differentiating it from osteoblastic metastases, as misdiagnosis can lead to unnecessary anxiety and interventions (15-16). 5. Conclusion Osteopoikilosis is a rare benign bone dysplasia typically discovered incidentally on imaging and often mistaken for osteoblastic metastases. In this case, the characteristic symmetric sclerotic foci with well-defined margins supported the diagnosis without the need for invasive studies. Given its benign course, management remains conservative with symptomatic care and follow-up, while recognizing its hereditary nature is important for family evaluation and counseling. Compliance with ethical standards Acknowledgments Top Central University of Ecuador for its continuous support and commitment to academic and scientific excellence. 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