Skeletal Radiol DOI 10.1007/s00256-015-2216-3

CASE REPORT

Osteomesopyknosis—a benign axial hyperostosis that can mimic metastatic disease Eva-Marie Heursen 1 & María del Carmen González Partida 1 & José Paz Expósito 1 & Federico Navarro Díaz 1

Received: 26 March 2015 / Revised: 31 May 2015 / Accepted: 30 June 2015 # ISS 2015

Keywords Spine . Axial osteosclerosis . Osteomesopyknosis

In both cases, scattered rounded or oval-shaped sclerotic lesions in the spinal column led to an extensive search for a primary neoplasm, thus missing the correct diagnosis. In one of the two cases, it took 6 years to diagnose osteomesopyknosis. The purpose of this case report is to inform the radiology community about the existence of this benign disease and familiarize radiologists with the various forms of radiologic manifestation of osteomesopyknosis to help them make the correct diagnosis in future cases. This can avoid unnecessary anxiety and overdiagnosis of this benign disorder.

Introduction

Case report

Osteomesopyknosis is a rare benign autosomal dominant condition of axial osteosclerosis that can manifest with back pain. Typical findings are dense endplates and patchy sclerotic lesions located in the axial skeleton, with a predilection for the vertebral bodies, sacrum and pelvic bones [1]. When the predominant radiologic presentation is a spinal column with patchy roundedshaped sclerotic lesions, the imaging appearance can be similar to blastic metastasis, and patients often undergo multiple diagnostic examinations in order to rule out a primary neoplasm [2–4]. This case report describes two cases of ostemesopyknosis, seen in siblings.

A 34-year-old, otherwise healthy male patient presented with diffuse lower back pain without any focal neurologic deficits. Plain radiographs of the thoracic and lumbar spine did not depict any abnormalities (Fig. 1). Magnetic resonance imaging of the dorsal and lumbar spine revealed multiple scattered round- or oval-shaped lesions located in the vertebral bodies and posterior elements of the spine. The lesions were well circumscribed with low signal intensity on T1- and T2-weighted images (Fig. 2). Some lesions were hyperintense on the short tau inversion recovery (STIR) sequence (Fig. 3). These findings were highly suspicious for metastatic disease. A whole-body scintigraphy and thoracic and abdominal CT scan were performed to search for a primary neoplasm. Scintigraphy showed increased uptake of the radiotracer in the region of the thoracic spine and sacrum (Fig. 4). CT images revealed multiple sclerotic lesions in the spinal vertebral bodies, sacrum and iliac bones, without evidence of a primary neoplasm

Abstract We report two cases of an axial osteosclerosis with histopathologic findings of osteomesopyknosis in siblings. Osteomesopyknosis is a benign hereditary osteosclerosis that can show a radiologic pattern similar to blastic metastatic disease. The aim of this article is to inform radiologists about the existence of this benign condition and its various radiologic manifestations. Therefore, we discuss the principal differential diagnosis and point out the key imaging findings of osteomesopyknosis in order to avoid overdiagnosis in future cases.

* Eva-Marie Heursen [email protected] 1

Radiology Department of the University Hospital, Hospital Universitario Puerta del Mar, Cádiz, Spain

Skeletal Radiol Fig. 1 Lateral and anteriorposterior radiographs of the whole spine do not show any striking abnormalities

(Fig. 5). A bone series of the hands, feet, lower and upper extremities and skull was negative, which made osteopoikilosis unlikely (Fig. 6). Biopsy of one of the bony lesions was planned when the patient mentioned that his sister had experienced something similar years ago. In order to compare both cases and to look for Fig. 2 Sagittal T1- (a) and T2-weighted images (b) of the thoracic spine show multiple patchy hypointense lesions in the vertebral bodies

similarities the clinical history of the sister was obtained. She had presented 6 years ago, at the age of 33, with neck pain. Magnetic resonance images of the cervical spine showed multiple scattered well-circumscribed hypointense lesions in the vertebral bodies without alterations of the spinal cord (Fig. 7). The patient

Skeletal Radiol Fig. 3 Sagittal images (STIR sequence) show increased signal intensity in one of the thoracic vertebral bodies (T11)

underwent mammography and magnet resonance of both mammas in order to exclude breast cancer. A suspicious 12-mm mass in right upper quadrant of the left mamma

turned out to be a benign fibroma. Finally, a biopsy of one of the bone lesions was performed. The pathologic report described an increase in trabecular thickness with no other abnormalities. The patient was discharged without a final diagnosis.

Discussion

Fig. 4 Whole-body scintigraphy shows slightly increased uptake of radiotracer in the T11 thoracic vertebral body and sacrum

Osteomesopyknosis is a rare autosomal dominant condition that manifests with sclerotic bone lesions confined to the axial skeleton and proximal long bones. Only very few cases have been published in the medical literature today. In 1979 Simon et al. described the first four cases, all members of the same family, with back pain and axial sclerotic lesions [5]. One year later, Maroteaux et al. introduced the term Bosteomesopyknosis,^ which is derived from the Greek terms Bmesos^ for middle and Bpoykno^ for thickened, since the alterations are increased density of the bone [6]. Since then 35 cases seen in 14 families have been reported [2, 4–9]. The typical radiologic findings seen in a large number of patients are thickened endplates of the vertebral bodies [2, 4, 7–9]. Dense endplates can be confounded with the so-called Brugger-jersey spine^ seen in patients with hyperparathyroidism [10]. Normal parathyroid hormone levels and the absence of osteolytic findings in the phalanges can help to rule out this pathology. Some authors mistakenly consider osteomesopyknosis as a mild form of osteopetrosis (Albers-Schönberg disease), because it

Skeletal Radiol Fig. 5 Coronal (a) and sagittal (b) reconstructions of the thoracic spine and axial images of the sacrum (c) and a thoracic vertebra (d) show patchy sclerotic lesions with more or less well-defined margins that are located in the bone marrow of the vertebral bodies and sacrum

can show similar radiographic findings such as Bsandwich vertebra^ (hyperdense endplates) or a Bbone in a bone^ appearance (increased central density within a vertebral body) [4, 7, 8]. Histopathologic findings in osteopetrosis, however, are distinct from osteomesopyknosis. In osteopetrosis the biopsy shows cores of cartilage covered by woven bone in the marrow, whereas in osteomesopyknosis the predominant histopathologic pattern is increased trabecular thickening [11]. No mineralization defect is seen, such as in axial osteomalacia, another entity sometimes related to osteomesopyknosis. In addition, in axial osteomalacia radiographs show a distinct radiologic pattern with coarsening of the trabecular bone, a Bsponge-like^ appearance of the spine and fuzzy cortices [12–14]. In some cases of osteomesopyknosis, the most salient radiologic findings are patchy sclerotic lesions located in the vertebral bodies and posterior elements of the spine rather than dense endplates [1, 3, 11, 15, 16]. This Fig. 6 Plain radiographs of the skull (a) and (b) and feet (c) now show abnormality in bone density excluding osteopikilosis

radiologic presentation can misleadingly raise the suspicion of blastic metastasis. In some of the reported cases, patients underwent an extensive search for the primary tumor because metastatic diseases were suspected [2–4]. However, osteomesopyknosis is a benign axial hyperostosis with a good prognosis that appears not to progress significantly over time [15]. It is typically diagnosed in adolescents, with later diagnosis in older adults being the exception [2]. The onset of the disease is still uncertain; the youngest patient ever reported was 7 years old [8]. Typical clinical presentation is diffuse back pain, although patients may be asymptomatic, and the relation between the sclerotic bone lesions and symptoms may be pure coincidence. Blood analysis is usually normal. Scintigraphy may show an increased uptake of radiotracer, such as seen in our two cases [3, 4, 11]. Most of the patients have additional lesions in the iliac bones, some of them in the femoral head, and one

Skeletal Radiol Fig. 7 Sagittal and axial T1-weighted (a, b) and T2-weighted (c, d) images of the cervical spine show multiple hypointense lesions in the vertebral bodies and posterior elements

patient had lesions in the scapula and proximal humerus [2]. The diagnostic key to differentiate osteomesopyknosis from other sclerosing bone disorders such as osteopoikilosis or osteopetrosis is that the head and distal extremities are not involved and that there are no associated abnormalities (Table 1) [17, 18]. Osteomesopyknosis may represent a

Table 1

similar group of disorders which may be clarified when a molecular/gene defect for this condition(s) is identified. It is important to know this benign entity in order to avoid anxiety and overdiagnosis. The female patient from our case report had to live about 6 years with the fear of suffering from a malignant disease, without having a diagnosis. Knowing the

Sclerotic bone disorders with findings similar to osteomesopyknosis

Sclerosing bone disorder, differential diagnosis from osteomesopyknosis

Morphology of the sclerotic lesions and findings similar to osteomesopyknosis

Localization

Associated findings that differ from osteomesopyknosis

Osteopoikilosis

Multiple small variably shaped radiodensities similar to the lesions in osteomesopyknosis

Metaphysis of long bones, hands, feet, skull

Osteopetrosis

Generalized increase in bone density; Bbone within a bone^ appearance and Bsandwich vertebra^ can also be seen in osteomesopyknosis Dense endplates, Brugger-jersey spine,^ can mimic osteomesopyknosis

Long bones, skull, spinal column, ribs, feet, hands

Involvement of hands, feet, skull, lesions are more numerous and in general smaller in size Hepatosplenomegaly, anemia, multiple fractures, changes are more generalized bone density, no patchy lesions Elevated parathyroid hormone; osteolysis classically affects the radial aspects of the proximal and middle phalanges of the 2nd and 3rd fingers Can have a soft tissue component, presence of primary neoplasm (especially breast cancer or prostate cancer, transitional cell carcinoma), older patients, elevated tumor markers, anemia

Hyperparathyroidism

Blastic metastasis

On MRI hypointense lesions on T1- and T2-weighted images, variable increase of intensity on STIR sequences, very similar to osteomesopyknosis

Spinal column, vertebral bodies

Any bone can be involved

Skeletal Radiol

diagnostic radiologic features of this disease can prevent similar suffering in the future. In conclusion, in a patient with back pain and sclerotic lesions confined to the axial skeleton, who has no history of primary tumor and where neither further skeletal nor analytic abnormalities are present, the radiologist should consider osteomesopyknosis as a diagnostic option. Conflict of interest The authors declare that they have no conflict of interest.

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Osteomesopyknosis--a benign axial hyperostosis that can mimic metastatic disease.

We report two cases of an axial osteosclerosis with histopathologic findings of osteomesopyknosis in siblings. Osteomesopyknosis is a benign hereditar...
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