Bilateral shoulder stiffness with limitation of joint motion and left shoulder pain intensified by activity for several months.
It was several months that a young man complained of bilateral shoulder stiffness with limitation of joint motion and left shoulder pain intensified by activity. No recent traumas were reported. A bilateral shoulder x-rays was performed showing multiple small sclerotic islands as round-shaped or oblong radio-opacities at both humeral heads (Fig.1). Shoulders ultrasound was negative. Subsequent skeleton survey by plain X-rays (hands, pelvis, knees, feet) was carried out to confirm the radiological diagnosis, showing multiple sclerotic foci scattered near the articular ends (Fig. 2,3,4,5). He had no sibs with known osteopoikilosis and his parents had not a skeleton survey; when asked, he did not remember the typical findings of osteopoikilosis during his life unless a yellowish papule (or plaque) on the right buttock when he was younger, then disappeared.
When endochondral ossification (Fig. 6) proceeds mormally but mature bony trabeculae coalesce and fail to resorb and remodel, the resulting developmental anomalies are referred to as enostosis ((bone island), osteopoikilosis, or osteopathia striata. Osteopoikilosis (osteopathia condensans disseminata, or "spotted bone" disease) is a rare sclerosing bone dystrophy characterized by numerous sclerotic foci at multiple epiphyses of the long bones, the carpus, tarus, pelvis, sacrum, and scapulae [1]. Prevalence has been estimated at 1/50,000 [2]. It is asymptomatic and diagnosed incidentally by radiography but it is important, to distinguish, clinically, this condition from more severe disorders such as mastocytosis and tuberous sclerosis as well as from osteoblastic bone metastasis [11]. It has been documented to occur as an autosomal-dominant trait [1;3]. Although radiography is usually sufficient to make a diagnosis, questionable cases may require radionuclide imaging, which is diagnostic. In osteopoikilosis a bone scan is relatively normal, unlike in metastatic disease, which invariably shows an increased uptake of radiopharmaceutical [11]. Occasionally, it is associated with other abnormalities such as dacryocystitis, blepharitis and heart or renal malformations, or endocrine disorders, as summarized by Guñal et al. [2]. It is commonly associated with small subcutaneous fibrous nodules called dermatofibrosis lenticularis disseminate (Buschke-Ollendorff syndrome). Moreover patients with osteopoikilosis and rheumatoid arthritis, polyartralgia, synovial chondromatosis, trisomy 8, connective tissue disorders affecting the skin and joints, and discoid lupus erythematosus have also been reported [2,4,5,6]. Melorheostosis is a rare condition of unknown etiology (Lery disease) belonging to a group of bone disorders called the mixed sclerosing dysplasias, which combine characteristics of both endochondral and intramembranous failure of ossification (Fig. 6). It was believed to have no hereditary features being usually sporadic, but the recent finding of mixed sclerosing bone dysplasia in three family reports with osteopoikilosis [1,4,8,9,], suggested that the melorheostotic component of this disorder may be due to a second mutation at the same locus that causes isolated familial osteopoikilosis. The presenting symptom is pain intensified by activity. Limitation of joint motion and stiffness are common, due to contractures, soft tissue fibrosis, and periarticular bone formation in the soft tissue. It may be monostotic (forme fruste) or polyostotic, affecting entire limb. Standard radiography is sufficient to make a diagnosis. The lesion is characterized by a wavy hyperostosis that resembles melted wax dripping down the side of the candle, the feature from which the disease derives its name (Greek melos: member; rhein: flow); moreover, only one side of the bone is usually involved [11].
Generalized osteopoikilosis.
Based on the provided X-ray images of both shoulders, pelvis, both hands, both knees, and feet, multiple punctate or patchy high-density shadows can be observed in various skeletal regions (including the proximal humerus, scapula, pelvis, etc.). These appear irregular or round in shape. In some areas, relatively localized sclerotic bone island-like changes are evident with clearly defined margins and dense trabecular structures. No clear signs of osteolytic destruction or erosive changes by osteoblastic tumors are noted. No obvious joint space narrowing or destruction of the bony articular surfaces is observed in both shoulder joints, and there is no significant soft tissue swelling or calcification. Currently, no definite fracture lines are visible.
Clinically, the patient presents with restriction of movement in both shoulder joints, with pain in the left shoulder exacerbated by activity. Along with the noted multiple sclerotic bone changes, benign sclerotic bone diseases and related mixed sclerosing bone developmental disorders should be a key consideration.
Considering this patient is a 29-year-old male presenting with multiple sclerotic foci in both shoulder joints and painful limitation of movement in the left shoulder, and given that some of the sclerotic patterns may appear “candle-dripping,” the most likely diagnosis is a combined sclerosing bone developmental anomaly (mixed sclerosing bone disease), particularly melorheostosis (Melorheostosis), which aligns closely with the clinical presentation. However, since images also indicate possible bone island or osteopoikilosis-like changes, there remains a possibility of osteopoikilosis combined with partial melorheostotic features in a form of mixed sclerosing bone disorder. If further confirmation is needed, bone scintigraphy and genetic testing may be conducted to rule out neoplastic conditions or other rare bone diseases.
Because such benign sclerosing bone developmental anomalies are generally non-aggressive, treatment mainly depends on symptom severity and the degree of functional limitation:
Disclaimer: This report is a reference analysis based on the current imaging and limited clinical information and should not be considered a substitute for in-person consultation or professional medical advice. If you have any questions or if your condition changes, please seek prompt evaluation from an orthopedic or radiology specialist and undergo additional tests or treatment as needed.
Generalized osteopoikilosis.
