CASE 3662 Published on 05.08.2005

Osteopoikilosis presenting with symptoms of Melorheostosis


Musculoskeletal system

Case Type

Clinical Cases


Cordopatri D., Cavallotti F., Biggi S., Ugolotti U.


29 years, male

Clinical History
Bilateral shoulder stiffness with limitation of joint motion and left shoulder pain intensified by activity for several months.
Imaging Findings
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].
Differential Diagnosis List
Generalized osteopoikilosis.
Final Diagnosis
Generalized osteopoikilosis.
Case information
DOI: 10.1594/EURORAD/CASE.3662
ISSN: 1563-4086