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What is Ollier’s disease?

Introduction
Causes and Symptoms
Epidemiology
Ollier’s disease and Maffucci syndrome
Case reports
Diagnosis and treatment
References
Further reading


Ollier’s disease (OD) is a rare, non-hereditary benign bone disease. Multiple enchondromatosis with a typical asymmetric distribution limited to the appendicular skeleton is the hallmark feature of OD. The development of an enchondroma into chondrosarcoma is the most dangerous complication of OD.

Ollier originally defined the disease as a rare condition characterized by numerous endogenous unilateral limb chondromas with limb abnormalities in 1889. Clinical signs of this disease are most common during the first ten years of life. Ollier’s disease has a difficult prognosis.

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Causes and Symptoms

Although it has been suggested that the incidence of Ollier disease may be associated with somatic mosaic mutations in isocitrate dehydrogenase IDHI and IDH2, the etiology of the disease has not yet been proven. It has also been proposed that somatic mutations in the parathyroid hormone receptor 1 (PTHR1) gene (R150C) may be linked to the onset of Ollier disease. Both of these theories hold that the disease is a non-hereditary disease; it is a non-familial genetic disease that develops spontaneously and is not transmitted from generation to generation. Although the etiology of the disease has been identified, the pathogenesis is not yet fully understood.

Local discomfort, bony swelling, and palpable bone masses are common clinical symptoms during the first decade of life and are frequently associated with bone malformation. Clinical signs include headaches and cranial nerve palsy. Enchondromas of the extremities are often apparent as implanted masses within the phalanges, metacarpals, and metatarsals on physical examination. Long tubular bones, such as the tibia, femur and/or fibula, are usually affected by enchondromas; flat bones, especially the pelvis, can also be impacted. Lesions can affect many bones and are frequently distributed asymmetrically, affecting only or mainly one side of the body. Bones that have been affected are often shorter and deformed.

Shortenings of the bones are frequently associated with bending and bending of the bones, which can impede joint movement. Forearm deformities are very common. In Ollier’s disease, the reported incidence of malignant transformation of enchondromas ranges from 5% to 50%, with one multicenter study reporting a rate of 40%. Between the ages of 13 and 69, malignant transformation is most common. Intracranial lesions have previously been described, and astrocytoma (low-grade glioblastoma multiforme) and oligodendroglioma are the most common types of CNS cancers associated with Ollier syndrome.

Epidemiology

The prevalence of Ollier’s disease is estimated at 1 in 100,000 people. No gender-related trends have been reported to date.

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Ollier’s disease and Maffucci syndrome

Multiple enchondromas describe Ollier’s disease (OD) and Maffucci’s syndrome (MS). MS patients also develop benign vascular proliferations which, in 8.5% of cases, become malignant. Multiple enchondromas, usually unilateral in distribution and with a preference for the appendicular skeleton, define OD. Multiple enchondromas, which are usually distributed bilaterally, are a hallmark of MS. Multiple swellings in the extremities, deformities around the joints, limitations in joint mobility, bone shortening, discrepancy in leg length, pain, loss of function, and pathological fractures are all symptoms of both diseases. OD and MS are rare events. No familial cases have yet been reported.

Case reports

Ding et al., in 2019, described a 27-year-old woman who had been hospitalized with paroxysmal headaches and left ptosis for two weeks. A mass was discovered on magnetic resonance imaging (MRI) on the left side of the parasellar area. The lump was surgically removed and histopathological investigation revealed it to be grade I chondrosarcoma. Further imaging tests and pathological investigation during follow-up confirmed the ultimate diagnosis of OD.

Wang et al., in 2020, reported a case in which a 37-year-old man had an obvious lump on his left index, middle and index fingers since he was six years old; however, no special treatment was given. The tumors on the patient’s hands had grown in size, taking on a dendritic form, and were accompanied by pain, limiting function and movement after 30 years. Multiple osteopathies of the left hand, left hip, left knee, left ankle and left foot were discovered on radiography. Magnetic resonance imaging (MRI) of the hip revealed aberrant bone and soft tissue signals in the proximal left femur, suggesting the possibility of malignancy. As a result, the clinical diagnosis of Ollier’s disease was made.

The 2nd, 3rd and 4th metacarpophalangeal joints of the left hand were sectioned and the lesions of the left proximal femur were biopsied after preoperative preparation and under brachial plexus anesthesia and local anesthesia. Left hip joint dissection was advised due to findings that the mass on the left hip joint was malignant; however, the patient and his family could not accept this, and the patient was discharged when his condition was somewhat stable. The patient thought that the left hand function was satisfactory after 1.5 years of follow-up, but the lesion in the left thigh had spread, the local ulcer had ruptured and the discomfort had become more intense . Three months later, the patient died.

Diagnosis and treatment

Clinical and conventional radiological examinations, rather than genetic testing, are used to diagnose Ollier disease. The most effective method for diagnosing many malignant lesions and transformations is radionuclide bone imaging. It can help in the diagnosis and prognosis of Ollier’s disease. One of the most basic instruments for diagnosing bone diseases is x-rays. Ollier disease lesions are mostly oval and develop in the diaphysis and metaphysis of short or long bones.

The clinical diagnosis of Ollier’s disease is straightforward and the majority of patients show no clear gender pattern. Ollier’s disease usually presents as one or more bony lumps during the first ten years of life. Ollier’s disease causes limb abnormalities that worsen with age, affecting the growth and development of children.

Surgical removal of lesions and symptomatic treatment of probable consequences such as pathological fractures, growth defects and neurological disorders are the only effective treatments. Long-term follow-up is possible for people with Ollier’s disease who do not have substantial deformities or functional impairment. Bone lengthening surgery can help repair abnormalities and keep limb development as balanced as possible. There is currently no specific pharmacological therapy for OD. Amputation may be necessary to reduce the risk of recurrence and metastasis after surgery and to improve survival.

References

Further Reading

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