This case report presents a rare and challenging manifestation of polyostotic fibrous dysplasia (FD), a skeletal developmental anomaly characterized by the proliferation of fibrous connective tissue intermingled with irregular bony trabeculae. While monostotic FD is more common, polyostotic FD can occur in the context of McCune-Albright syndrome, a multisystem developmental disorder. Our patient, a 55-year-old female with a history of diabetes, hypothyroidism, and dyslipidemia, presented with progressively worsening dysphagia, sternal pain, and swelling over three years. Clinical examination revealed a tender and hard swelling in the upper sternal area, prompting further evaluation. Laboratory results, including bone turnover markers, were unremarkable. Imaging studies unveiled a sizable anterior mediastinal lesion with heterogeneous enhancement and coarse calcifications, initially raising concerns of malignancy. Subsequent positron emission tomography scan findings confirmed FD involvement in both the sternum and right femur. Histopathology of the mediastinal mass revealed a spindle cell neoplasm with bony metaplasia, consistent with FD, supported by immunohistochemistry. A multidisciplinary team affirmed the diagnosis of polyostotic FD, and follow-up imaging after one year demonstrated no significant change in lesion size, confirming a benign etiology. While bisphosphonate therapy was planned, regrettably, the patient was lost to follow-up. This case underscores the importance of a comprehensive, multidisciplinary approach in diagnosing and managing complex presentations of FD, ultimately contributing to improved patient care and outcomes in such instances.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798103PMC
http://dx.doi.org/10.7759/cureus.50833DOI Listing

Publication Analysis

Top Keywords

fibrous dysplasia
8
rare challenging
8
dysplasia masquerading
4
masquerading sternal
4
sternal malignancy
4
malignancy rare
4
challenging presentation
4
presentation case
4
case report
4
report presents
4

Similar Publications

Benign Bone Tumors of the Hand: Beyond Enchondromas.

J Am Acad Orthop Surg

November 2024

From the Department of Orthopedic Surgery, SUNY Upstate Medical University, Syracuse, NY (Albanese, Lynch, and Damron), and the Department of Orthopaedic Surgery, Virginia Commonwealth University, Richmond, VA (Eswaran).

Beyond enchondromas, the most common bone tumors of the hand, there are numerous less common benign bone tumors and mimickers with which orthopaedic and hand surgeons should be familiar. These include other benign cartilage tumors, cystic lesions, osteogenic tumors, giant cell tumor, and fibrous dysplasia. Particularly unique lesions include bizarre parosteal osteochondromatous proliferation (Nora lesion), florid reactive periostitis, turret exostosis (acquired osteochondroma), giant cell reparative granuloma (solid aneurysmal bone cyst), and epidermoid cyst.

View Article and Find Full Text PDF

Background: Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.

View Article and Find Full Text PDF

Osteoblastoma is an uncommon benign bone tumor rarely involving the craniofacial skeleton. Manifestations in the fronto-orbital region are exceptionally rare. A 19-year-old man presented with persistent headache, nausea, vomiting, right eye pain, and longstanding right exophthalmos.

View Article and Find Full Text PDF

Segmental Odontomaxillary Dysplasia: Unusual Tumoral Lesion.

Head Neck Pathol

January 2025

Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Introduction: Segmental Odontomaxillary Dysplasia (SOD) is a non-hereditary, unilateral developmental anomaly recently included in the WHO's classification of head and neck tumors.

Case Presentation: Here, we report the case of an 8-year-old boy presenting with unilateral maxillary enlargement and pain without facial asymmetry. Computed tomography revealed a hypodense area in the maxillary bone with altered bone structure and osseous expansion.

View Article and Find Full Text PDF

Background: Fibrous dysplasia (FD) is a rare condition in which normal spongy and cortical bone is replaced by non-neoplastic fibrous tissue, leading to weakened bone matrix and increased risk of pathological fractures and deformities. Treating these deformities poses a significant challenge for surgeons. While various cases of surgical stabilization and limb lengthening using intramedullary nails have been reported, there is limited evidence on the use of Motorized Intramedullary Limb-Lengthening Nails (MILLNs) in FD patients.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!