Ollier's Disease

Chestley L. Yelton, M. D.


Dyschondroplasia is a rare developmental error in which the basic defect appears to be intrinsic to bone and follows the pattern of normal bone growth. It is characterized by oval masses or elongated columns of unossified cartilage which appear as cystic, trabeculated, radiolucent defects in the metaphyses and diaphyses of certain bones.

According to Aegerter in 1963, the lesions apparently represent a perversion of endochondral growth with chondroblasts which fail to mature properly being left behind in the metaphysis by an advancing epiphyseal line. It was first described and named by Ollier in 1899. He called attention to the radiolucencies which are characteristic of enchondromatosis. The dyschondroplasia described by Ollier is a multiple enchondromatosis in which the lesions are entirely or, for the most part, unilateral.

Apparently heredity and familial influences play no part in the incidence of dyschondroplasia. Patients with this defect have normal descendants.

The diagnosis is usually made during the second year of life when inequality of limb length becomes quite noticeable. In some cases the inequality is detected shortly after birth. As growth proceeds the inequality of limb length becomes greater. Deformities occur due to 1) bending of the bones by weight bearing, 2) irregular rates of growth where only a portion of the width of the metaphysis is occupied by the enchondroma or 3) when only one of the paired bones is involved.

Although numerous hypotheses have been advanced regarding the development of dyschondroplasia none are convincing and the etiology of the disease remains unknown.

The opportunity to follow the progress of dyschondroplasia is rare. In the literature very few patients have been followed for more than a short time, and still fewer have been fitted with prostheses after amputation. Murray and Cruick-shank (1942) reported on a patient who was under observation for fifty-four years. Cleveland and Fielding (1959) had a patient who had been followed for thirty-eight years. Margolis (1959) reviewed a case with roentgenographic evidence of the disease for over twenty-five years.

The following case, which has been followed for almost twenty-four years, is being presented because of its rarity. The lesions are entirely on one side of the skeleton and the patient can successfully wear a suction-socket prosthesis after a mid-thigh amputation which left a large en-chondromatous mass in the proximal femur.

Case Report

CM., a male now twenty-five years of age, was first seen in the Crippled Children's Clinic in July 1942 at the age of twenty-three months (Fig. 1 ), because of bowing of the right leg. His history revealed that approximately one month after he started walking his right foot appeared to be crooked. On examination the bowing appeared to be in the tibia and there was shortening of the right lower limb. Roentgenographic examination of the limb revealed cystic lesions in the proximal and distal femur and in the upper and lower ends of the tibia. A long leg brace was applied.

In June 1944 increases in the deformity and leg length inequality were noted. In August 1944 the patient was admitted to St. Vincent Hospital and the "cysts" in the proximal and lower femur and upper and lower tibia were curetted and a long leg cast applied. The cysts were described as containing a fairly large quantity of a greyish, rather firm gelatinous-appearing material. Microscopic examination of this material showed it to consist entirely of cartilage of orderly arrangement, with most of the cells having a single nucleus. The cartilaginous matrix showed very little tendency to calcify.

During this period of hospitalization it was noted that the distal end of the right ulna was practically destroyed by cystic changes.

Following his discharge from the hospital, CM. was treated with a long leg cast until March 1945, at which time a long leg brace was applied.

In January of 1946 an osteotomy of the right tibia for the correction of bowing was performed. The osteotomy healed promptly and without incidence.

In March 1948, during his seventh year, it was noted that spots of calcification had appeared in the lesions at the distal ends of the long bones and that the inequality of limb length had increased to eight inches. This discrepancy had increased to nine inches by January 1951.

In August 1951 the patient fell and fractured the lower third of the right femur through the enchondromatous area. This fracture was treated by immobilization in plaster and healed promptly.

In January 1953 a roentgenographic skeletal survey revealed no evidence of enchondroma on the left side of the skeleton. On the right side typical findings of dyschondroplasia were seen in the medial condyle of the humerus, lower ulna, hand, ischium, inferior ramus of pubis, femur, tibia and foot. The proximal humerus, ribs and ilium were spared. The roentgenographs of the right hand (Fig. 2 ) and right foot Fig. 3 ), made at the time of this survey, are shown.

Roentgenographs of the right upper limb (Fig. 4 ) taken in April 1958 show lesions in the medial condyle of the humerus, a shortened ulna with lesions in its distal end, a dislocation of the head of the radius, and lesions in the triquetrum and pisiform bones.

In January 1961 the patient complained that the right middle finger was slowly enlarging and was becoming painful after use. Surgery for removal of the enchondroma was declined.

In June 1961, the patient, wearing a thirteen-inch lift, complained of pain in the lower right thigh on prolonged weight bearing and of increased enlargement of the middle phalanx of the middle finger. At this time roentgenographic examination revealed that the enchondroma, which had previously been noted as having eroded the cortex of the shaft, was indeed larger. A stress fracture through the enchondromatous mass in the lower third of the femur was suspected. Roentgenographs of the right femur (Fig. 5 ) and of the right leg (Fig. 6 ) exhibited the previously described lesions but failed to show a definite stress fracture.

In October of 1963 C.M. stated that pain in his right knee would begin after he had walked one block. He also reported that the middle finger of his right hand was getting in his way and he could no longer make a fist. At this time roentgenographic examination of the right hand (Fig. 7 ), when compared with film made February 1961, revealed that the tumor mass involving the middle phalanx of the middle finger had increased by approximately 150 per cent. An above-the-knee amputation and amputation of the right middle finger, both of which had previously been advised, were again recommended.

In December of 1964 the patient was forced to stop working because of his pain and he acquiesced to the advised surgery. The shoe lift and long leg brace worn at that time are depicted in Fig. 8 . His right knee joint was twenty-seven inches from the floor.

On January 3, 1964 an above-the-knee amputation was performed through the right femur just above the enchondromatous mass (Fig. 9 ). At the same time the right middle finger was disarticulated at the metacarpophalangeal joint (Fig. 10 ). The bones of the amputated lower limb and of the middle finger were markedly deformed. There was widely distributed replacement of normal bone by glistening, bluish-white cartilage which faded imperceptibly into surrounding rarefied bone. Microscopically, masses of hyaline cartilage were noted. The chondrocytes were frequently plump and arranged in clusters; but the features of malignancy were absent.

On April 1, 1964 C.M. was furnished with a quadrilateral suction-socket prosthesis and has been able to wear this successfully without additional suspension and without symptoms from the enchondroma in the femoral stump. When last seen in October 1965 (Fig. 11 ), he was doing well and was back at work grinding lenses at an optical service. He had no complaint referrable to his right hand or the above-knee stump.

Summary

It is unusual to encounter this rare disease of dyschondroplasia in medical practice and even more unusual to be able to follow up a patient with this condition over an extended period of time.

It is of special interest that while the early roentgenograph of the hand (Fig. 2 ) shows fungation of the enchondromata through the cortices of several phalanges, it was not until eight years later that the misplaced cartilage of the middle phalanx of the middle finger began to proliferate.

It is also of interest that the enchondroma visible in the proximal phalanx of the index finger (Fig. 2 ) had disappeared and was not evident eleven years later (Fig. 7 ). Generally, if there is a proliferation of the misplaced cartilaginous masses, it occurs in the hand and foot. If the enchondroma in the femoral stump follows the pattern of normal bone growth and has ceased to grow, the patient can be expected to continue to wear a prosthesis without difficulty.

Chestley L. Yelton, M. D. is the Professor of Orthopedic Surgery University of Alabama Medical College and Chief, Birmingham Child Amputee Clinic Birmingham, Alabama

References:
1. Aegerter, E.E., and Kirkpatrick, J.A., Jr., Orthopedic Diseases, Philadelphia, 1963, W.B. Saunders Co. (2nd ed.). 
2. Cleveland, M. and Fielding, J.M., Chondrodysplasia (Ollier's Disease), Report of a case with a thirty-eight year follow-up, J. Bone & Joint Surg., 41A:1341, 1959. 
3. Margolis, J., Ollier's Disease, Arch. Int. Med. 103-279, 1959. 
4. Murray, A.M., and Cruikshank, B., Dyschondroplasia: Report of a case, J. Bone & Joint Surg., 42B:344, 1960. 
5. Ollier, M., De la Dyschondroplasie, Bull. Soc. chir. Lyon. 3:22, 1899.