Ollier disease is a violation of the growth and development of bone structures, manifested by the formation of foci of cartilage tissue in one, several or most bones of the skeleton. It can affect any bones except the clavicle and the bones of the cranial vault. It is accompanied by deformation, shortening and disruption of the functions of the involved segments. It is usually detected during the period of active growth of the skeleton (from 2 to 10 years). Ollier disease is diagnosed on the basis of clinical data and radiography results. The treatment is operative, involves the removal of cartilage inclusions, bone grafting, osteotomy, lengthening of limbs using external fixation devices.
ICD 10
Q77.3 Point chondrodysplasia
Meaning
Ollier disease (dyschondroplasia) is a rare congenital pathology of the skeleton that manifests in childhood. It was first described in detail by the French surgeon L. Ollier in 1899. The causes of development have not been clarified, there are assumptions about inheritance by an autosomal dominant trait or the occurrence of spontaneous mutations. It occurs with the same frequency in patients of both sexes. It makes up 4% of the total number of dysplastic and neoplastic diseases of the skeleton in children. The phalanges of the toes and hands, long tubular bones are more often affected, then in descending order – pelvic bones, scapula, ribs, bones of the tarsus. Changes in the vertebrae and cranial vault are not excluded, but are not characteristic. There is an increased risk of degeneration of pathological areas of cartilage into chondrosarcoma, which necessitates regular monitoring.
Pathogenesis
Ollier disease affects bone structures that undergo the cartilaginous stage during intrauterine development, that is, all bones except the collarbones and the integumentary bones of the skull. For reasons that have not yet been explained, certain areas of cartilage located in the epiphyseal growth zones retain the embryonic structure. In the period of postnatal development, these areas, unable to transform, appear between the zones of normal growing bone tissue in the form of inclusions of various sizes and shapes. As the child grows, they, together with the surrounding bone, shift from the epiphysis first to the metaphysis, and then to the diaphysis. Most often, foci of altered cartilage are detected in metaphysical zones.
The volume of cartilage in the affected areas increases over time, which causes bone deformation and a decrease in the thickness of its cortical layer. When limbs are involved, their shortening occurs. The difference in the length of healthy and diseased bones in the lower leg and forearm causes secondary joint disorders, varus or valgus deformities. With an isolated lesion of the radius or ulna, myopia develops. With the involvement of the phalanges of the fingers, the mobility of the joints is limited. All of the above entails a significant decrease in the functionality of the affected segments.
Classification
There are several options for systematization of Ollier disease, based on the localization and prevalence of the pathological process. Taking into account the number of affected bones, according to M.V. Volkov’s classification, there are monossal (1 bone is affected), oligossal (2-3 bones are involved in the process) and polyossal (areas of embryonic cartilage are found in many bones) variants of the disease. A.A. Arenberg’s classification involves the allocation of four forms:
- Acroform. There is a lesion of small bones of the distal extremities (hands, feet).
- Monomelic form. The bones of the limb and the adjacent bones of the trunk (pelvis, shoulder blade) have been changed.
- One-sided form. Areas of cartilage in the bones are localized on one side or there is a significant unevenness of the lesion with the predominant involvement of one half of the body.
- Double-sided shape. The most common. Areas of cartilage are found in both halves of the body, usually located asymmetrically.
In the specialized literature, there is also a division based on the features of the structure of embryonic cartilage and its tendency to intensive growth. There are three types of cartilage tissue: similar in structure to ordinary hyaline cartilage, resembling chondroma (fast-growing, rich in vessels, causing destruction of adjacent bone) and occupying an intermediate position between these two variants.
Symptoms
The period of manifestation falls on the age of 2-10 years, the time of the appearance of the first clinical signs depends on the localization of the lesion. The reason for contacting a specialist is uneven or unilateral shortening and / or curvature of the limbs due to one or more segments, dysfunction. From 1 to 95 bones can be involved in the process. Pain syndrome in the absence of complications, as a rule, is not detected. Over time, the disorders worsen, in the area of the metaphyses of the bones of the extremities, in the area of the ribs, pelvis, shoulder blades, swellings form, sometimes there are restrictions of movement caused by periarticular deformities. In some cases, there is a slight severity of clinical manifestations in the absence of progression. Very rarely, Ollier disease has a latent course and is detected by chance.
When the upper extremities are affected, the phalanges of the fingers most often suffer. The clinical picture is variable. One or more of the middle or main phalanges are thickened, the degree of volume increase varies from insignificant to pronounced. The phalanges are dense to the touch, painless. This form of the disease is accompanied by the most severe limitations of joint mobility. There are violations of the function of the hand, multiple changes in bone structures entail difficulties in self-service, lagging in the development of household skills, and subsequently become the cause of disability or disability.
The lesions of the humerus are usually located proximally, the radius or ulna – distally. Severe deformities are formed when one of the forearm bones is involved. Due to the increasing difference in the length of the bones, a chronic subluxation of the hand (Madelung deformity) or dislocation of the beam head is formed, radial or ulnar myopia develops. The lesion of the lower extremities with Ollier disease usually becomes the reason for the earliest access to orthopedic doctors, which is associated with the appearance of lameness, “skew” of the pelvis and curvature of the spine with a relatively small shortening of the limb.
Complications
The predominant location of pathological cartilaginous inclusions in metaphyses can cause joint deformity and the development of contractures in Ollier disease. In adult patients, secondary arthrosis is often found due to a violation of the configuration of the joint and uneven load due to shortening of the limb. With large foci and thinning of the cortical layer, pathological fractures are possible. The most formidable complication of Ollier disease is the ability of altered areas to transform into chondrosarcoma.
Most often, foci in the pelvic bones, bones of the hand and foot, and long tubular bones degenerate into malignant neoplasia. A preliminary assessment of the risk of malignancy is not yet possible – in some patients, malignancy is absent throughout life even in the presence of multiple foci, in others there is a consistent formation of several tumors in different segments. It is believed that when the first neoplasm appears, the probability of subsequent neoplasms increases dramatically, some researchers suggest that malignancy occurs simultaneously in all areas.
Diagnostics
The diagnosis of Ollier disease is established by a specialist in the field of traumatology and orthopedics. The first signs of the disease can be detected by a pediatrician during a preventive examination of a child or during initial treatment due to the appearance of symptoms of pathology. The following objective and instrumental methods are used in the diagnostic process:
- Survey and inspection. The doctor talks with the patient’s parents, sets the time of occurrence of the manifestations of the disease, the subsequent dynamics. During the examination, the specialist makes special measurements to determine the length and identify deformities of the limbs, performs palpation of bone structures, assesses joint mobility.
- Radiography. Includes X-ray examination of all suspicious segments. The presence of Ollier disease is indicated by thickening and bulging of the metaphyses in combination with deformation of the diaphyses of varying degrees of severity and the presence of oval or spindle-shaped clearances in the areas of cartilage tissue. When the ribs are affected, their anterior parts suffer, with the involvement of the shoulder blades, pathological areas are located along the periphery of the bone.
Differential diagnosis is carried out with osteomyelitis, rickets, fibrotic dysplasia and bone tuberculosis. With rickets, characteristic deformities of the diaphysis are revealed, osteoporosis is detected on radiographs, there are no areas of enlightenment. Osteomyelitis and bone tuberculosis are accompanied by inflammatory symptoms, a characteristic X-ray picture. In fibrotic dysplasia, X-ray images in the diaphysis and metaphysis zone identify areas with fuzzy borders and a uniform matte pattern.
Treatment
Treatment of this disease presents significant difficulties, especially in the presence of significant deformities, pronounced shortening of limbs and multiple foci. There is no pathogenetic therapy. Surgical correction is not indicated for children due to rapid recurrence, when the lower extremities are affected, correction is carried out using orthopedic shoes. Surgical interventions are performed after the completion of intensive growth, in adolescence and adolescence. Usually, marginal resection is used with the replacement of the defect with a bone allo- or autograft. According to the indications, corrective osteotomy is performed.
In recent decades, external fixation devices have been actively used to lengthen limbs, but this technique requires careful determination of indications, since foci of altered tissue are often found in regeneration zones. To improve long-term results, the application of the Ilizarov apparatus is supplemented with osteotomy and resection of the affected areas. In case of malignancy, if possible, the affected bones are removed with endoprosthetics, the fingers of the hand are amputated or the phalanges are replaced with autografts. An important role in ensuring the normal quality of life of patients is played by measures for the selection of a profession, taking into account the limitations of working capacity.
Prognosis and prevention
The prognosis for life with Ollier disease is favorable. The degree of dysfunction of the affected segment is determined by the localization and prevalence of foci, as well as the intensity of progression. The exact probability of malignancy has not been established, scientists report the detection of oncological processes in 65% of patients, but indicate that these data are overstated, since the statistics included only patients treated in orthopedic and oncological hospitals. Due to an unidentified etiology, primary prevention has not been developed. Measures for the prevention and timely detection of malignant tumors include regular X-ray examinations of the affected segments.
Literature
- Ollier Disease: A Case Series and Literature Review. Markevičiūtė V, Markevičiūtė MŠ, Stravinskas M. Acta Med Litu. 2021;28(1):181-188. link
- Relapsing-Remitting Sixth Nerve Palsy in Association with Ollier’s Disease. Raoof N, Batty R, Carroll TA, Pepper IM, Sandison A, Eckersley R, Hickman SJ. Neuroophthalmology. 2015 Feb 3;39(2):92-95. link
- Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. Gajavelli S, Nakhla J, Nasser R, Yassari R, Weidenheim KM, Graber J. Surg Neurol Int. 2016 Sep 1;7(Suppl 23):S607-11. link
- Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. Ryabykh SО, Gubin AV, Prudnikova CO, Kobyzev CA. Global Spine J. 2013 Jun;3(2):109-14. link