17-year-old male patient without significant past medical history presenting with right third digit laceration. The patient had cut his finger on a metal window frame. No numbness or weakness. Denies any other injuries. Comparison radiograph from when the patient was 6 years old are available.
Plain radiographs of the right hand, taken nearly a decade apart. Images show dramatic increase in quantity and extent of multiple sclerotic lesions in the radius and ulna, carpal bones, metacarpals and phalanges. The bones have otherwise normal mineralization.
Of note, Figure 2 also shows evidence of soft tissue injury and laceration.
Background
Osteopoikilosis is a rare, benign condition characterized by multiple sclerotic foci, typically seen in the appendicular skeleton and the pelvis. It has an autosomal dominant inheritance pattern, linked to a loss-of-function mutation in LEMD3 (LEM domain containing 3). The LEMD3 gene encodes for Man1, an inner nuclear membrane protein. The mechanisms by which Man1 dysfunction leads to the phenotypical manifestations of osteopoikilosis are not yet known [1].
Clinical Perspective
Osteopoikilosis is seen in all age groups and affects both genders without partiality. It is usually an incidental radiographic finding. As such, it is typically asymptomatic, but may be associated with joint pain and effusions [2]. It does not have malignant potential but may be confused with osteoblastic metastases. To avoid unnecessary testing, radiologists should be made aware of this condition’s benign nature [2]. Osteopoikilosis is a feature of Buschke-Ollendorf syndrome (BOS), but it also appears independent of BOS [1]. As a part of the sclerosing bone dysplasia disorders, osteopoikilosis is often concurrently found with melorheostosis and osteopathia striata [3].
Imaging Perspective
The sclerotic lesions seen in osteopoikilosis are bone islands (enostoses), and therefore demonstrate the usual characteristics one would expect. On plain film and CT, jagged edges that blend into the surrounding bony trabeculae are appreciated. The enostoses have the same long axes as the bones that they are found in. They are predominantly found in the epiphyses and metaphysis, with a propensity for regions around joints [4]. Imaging evidence of a dramatic increase in quantity and extent of sclerotic foci is rarely documented. The appearance on MR follows mature dense bone, which shows low signal on both T1 and T2 weighted images. There is no signal enhancement following contrast administration [5].
Outcome
One should be mindful when raising the differential diagnosis based on these radiographic findings. It may lead to unnecessarily workup that could potentially lead to unnecessary surgery. A teaching point from comparing these two studies, is the benign progression of osteopoikilosis. Radiographic evidence that demonstrates the progression of this condition is rare in the literature.
Teaching Points
1. Osteopoikilosis is a rare, autosomal dominantly inherited condition. It is typically asymptomatic and is incidentally found on radiographs.
2. This case demonstrates the rarely documented benign progression of osteopoikilosis.
3. Osteopoikilosis does not require further workup, but may be found in association with bone or skin disorders.
Osteopoikilosis
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In the X-ray images of the patient’s right hand (comparing images taken at ages 6 and 17), multiple relatively round or oval high-density lesions (“bone islands”) are observed, primarily located around the metaphysis and epiphysis of the phalanges and metacarpals. These increased density lesions have blurry margins and gradually blend with the surrounding trabeculae, without notable soft tissue swelling or bone destruction. No fracture lines or obvious interruptions in cortical continuity are detected. These characteristic findings are visible in images from different time points and, by the age of 17, the number and distribution of these lesions appear to have increased. However, they still maintain the typical appearance of “bone islands.” Clinically, the patient presented with a laceration on the skin of the right third finger due to trauma. No nerve or tendon injury was identified; range of motion and sensation were normal.
Based on the above radiological features and the patient’s history, the main considerations are as follows:
Considering the patient is 17 years old, had similar lesions visible on imaging at age 6, lacks any history of malignant tumors or other underlying diseases, and shows multiple bone islands without obvious destruction or abnormal proliferation, the most likely diagnosis is:
Osteopoikilosis.
This condition is often inherited in an autosomal dominant pattern and is frequently identified incidentally during routine imaging. In the absence of clinical symptoms or other bone/skin involvement, further intervention is usually not required.
Since osteopoikilosis itself does not affect bone strength or joint function, the patient can gradually resume normal physical activities once the wound has healed. Recommendations for hand wound rehabilitation include:
Adhering to the FITT-VP principle (Frequency, Intensity, Time, Type, Volume, and Progression), the patient is encouraged to make gradual progress, monitor hand response, and adjust as necessary. If the wound becomes more painful, shows signs of infection, or if activity is impaired, discontinue related exercises and seek medical attention promptly.
Disclaimer: This report is a reference medical analysis based on the provided imaging and medical history. It does not replace an in-person consultation or the diagnostic and therapeutic advice of a qualified physician. If you have any questions or if your condition changes, please seek medical attention promptly.
Osteopoikilosis
