Ollier disease: A case report and literature review

Abstract

Ollier disease, also known as multiple enchondromatosis, is a rare congenital disease of unknown etiology. The main manifestation of this disease is a non-ossifying chondrocyte mass or hamartomatous growth of a chondrocyte in the metaphysis. A few cases can develop into chondrosarcoma or osteosarcoma. The present study describes the case of a 37-year-old male patient with left hip pain and dyskinesia diagnosed with Ollier disease, according to clinical features and findings of imaging analysis. In general, the incidence of Ollier disease is low, and thus, it is not well-known among orthopedic surgeons. However, due to its malignant transformation rate, medical practitioners should encourage patients to undergo regular follow-up examinations. In an aim to provide some insight into this disease, the present study begins by describing the case of an affected patient case and subsequently presents a review of the relevant literature in order to guide the clinical diagnosis and treatment of the disease.

Ollier disease: A case report and literature review

“…The pathogenesis of this disorder is not well established, but many theories regarding somatic mosaic mutations in isocitrate dehydrogenase (IDH)I and IDH2(2) have been associated with both Ollier disease and Maffucci syndrome [4] . Ollier illness is characterized by genomic copy number variations and mutations that influence a variety of important functions [5] several articles have recently proposed heterozygous mutations in the PTHR1, IDH1 (most common), and/or IDH2 genes as genetic aberrations [6] .…”

“…One of the most accessible and easy to perform diagnostic imaging examination to analyze bone lesions is conventional radiology. Ollier disease lesions typically arise in the shaft and metaphysis of short or long bones, and they are ovale in shape [6] . Although it classically presents as an expansile radiolucent lesion, it typically demonstrates no scalloping or cortical thinning [7] .…”

“…The lesions tend to enlarge as the child grows, leading to anomalies such as genu valgum and genu varum, the latter being the most common [1] , asymmetrical limb shortening, and other symptoms. Lesions in short bones can take the shape of scallop-like impressions due to the space limitations; the cortical bone also grows thinner and pathological fractures are more common [6] . The most severe kind of enchondroma development is malignant transformation to secondary chondrosarcomas.…”

“…There is no specific pharmaceutical treatment for Ollier disease. A long-term surveillance and follow-up can be conducted for patients with Ollier disease who do not have major malformations or functional impairment [6] . Physiotherapy such as ultrasound, cryotherapy, CO 2 laser with stretching, active, mobilization, occupational therapy, and coordination exercises appear to significantly improve the functional abilities [5] .…”

Kikuchi-Fujimoto disease and systemic lupus erythematosus – an enigmatic association for clinicians and pathologists: Case report and short literature review

“…Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, first described in 1972, represents a rare, benign and self-limiting disorder which affects predominantly young Asiatic women, but it can affect both genders and any race 1 . The etiology of the disease is not yet elucidated.…”