Clinicoradiologic perspective of a severe case of polyostotic fibrous dysplasia

Abstract

Fibrous dysplasia (FD) of bone is a congenital non-heritable disorder that was first reliably reported by von Recklinghausen, when he described patients with pathologic condition of bone characterized by deformity and fibrotic changes that he termed as osteitis fibrosa generalisata. FD may involve one bone (monostotic) or multiple bones (polyostotic) and occurs throughout the skeleton with predilection for long bones, ribs, and cranio-facial bones. Seventy percent of the lesions are monostotic and asymptomatic, and identified incidentally. The polyostotic form of disease is often deforming and devastating, with multiple skeletal complications like repeated fractures, limb length discrepancies, and bone pains. The bone lesion of unknown origin is characterized by slow progressive replacement of normal bone by abnormal proliferative, isomorphic fibrous tissue. This case report documents a 40-year-old male with severe polyostotic FD that involved most of the skeleton, including long bones of all extremities, pelvis, facial bones, and skull base. Initial evaluation consisted of physical examination, plain radiographs, which was followed by computed tomography scan, Single-photon emission computed tomography scan, and biochemical and hematological examination. This paper stresses on the clinical implications and management of this rare debilitating disease.

CT and MR Imaging in a Large Series of Patients with Craniofacial Fibrous Dysplasia

“…Fibrous dysplasia (FD) as an entity was described partly by von Recklinghausen in 1891, and in detail by McCune and Bruch in 1937, which was immediately succeeded by coining of the term “fibrous dysplasia” by Lichenstein in the following year [ 1 – 3 ]. Knowledge about the clinical and radiological course and behavior of FD has increased considerably for the last 70 years.…”

Post-traumatic fibrous dysplasia of the parietal bone: A rare entity

“…Fibrous dysplasia is a progressive, congenital, nonheritable, benign skeletal lesion in which cellular fibrous connective tissue together with irregular woven bony trabeculae substitutes focal area of normal bone. [ 1 2 3 ] The first reported documentation of this pathology was made by von Recklinghausen in 1891. [ 5 ] Later it was named FD by Lichtenstein in 1938.…”

“…[ 8 ] CT scan is the main stay for following such lesions after surgical excision. [ 1 ] The response to treatment can be assessed with the help of bone markers. These include total serum bone alkaline phosphatase and urine hydroxyproline, the levels of which are raised in the active phase of the disease.…”

“…Fibrous dysplasia (FD) is a rare, benign, but progressive fibro-osseous condition where there is a replacement of normal skeletal elements with fibrous connective tissue together with irregular woven bony trabeculae. [ 1 2 3 ] It mostly occurs in the long bones such as femur or tibia and craniofacial bones including ethmoid, sphenoid, frontal, maxillary, temporal, and occipital bones. FD of paranasal sinuses is rare.…”

Odontogenic Sinusitis Caused by an Inflammation of a Dentigerous Cyst and Subsequent Finding of a Fibrous Dysplasia. A Case Report

“…It is caused by somatic activating mutations in the subunit of the stimulatory G protein [15]. It begins in childhood and it usually stops at puberty, although about a third of patients have progression in adulthood [16]. …”